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Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A).

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Title: Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A).
Authors: Casamassa A; Cellular Reprogramming Unit, IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy., Rotundo G; Cellular Reprogramming Unit, IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy., Ceresoni C; Cellular Reprogramming Unit, IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy., Turco EM; Cellular Reprogramming Unit, IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy., Torrente I; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy., Candido O; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy., Nicita F; Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, P.zza Sant'Onofrio 4, 00165 Rome, Italy., Tonduti D; COALA (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milano, Italy., Bertini E; Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, P.zza Sant'Onofrio 4, 00165 Rome, Italy., Marano M; Unit of Neurology, Neurophysiology and Neurobiology, Department of Medicine, Campus Bio-Medico of Rome University, Rome, Italy., Ferrari D; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, 20126 Milan, Italy., Cereda C; Department of Women, Mothers and Neonatal Care, Children's Hospital 'V. Buzzi', Milano 20154, Italy., Pennuto M; Veneto Institute of Molecular Medicine (VIMM), 35129 Padova, Italy; Department of Biomedical Sciences (DBS), University of Padova, 35131 Padova, Italy., Vescovi AL; Cellular Reprogramming Unit, IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy., Carelli S; Pediatric Research Center 'Romeo ed Enrica Invernizzi', Department of Biomedical and Clinical Sciences 'L. Sacco', University of Milano, Milano 20157, Italy., Rosati J; Cellular Reprogramming Unit, IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy. Electronic address: j.rosati@css-mendel.it.
Source: Stem cell research [Stem Cell Res] 2024 Aug; Vol. 78, pp. 103468. Date of Electronic Publication: 2024 Jun 06.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A).
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  Data: <searchLink fieldCode="AU" term="%22Casamassa+A%22">Casamassa A</searchLink>; Cellular Reprogramming Unit, IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.<br /><searchLink fieldCode="AU" term="%22Rotundo+G%22">Rotundo G</searchLink>; Cellular Reprogramming Unit, IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.<br /><searchLink fieldCode="AU" term="%22Ceresoni+C%22">Ceresoni C</searchLink>; Cellular Reprogramming Unit, IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.<br /><searchLink fieldCode="AU" term="%22Turco+EM%22">Turco EM</searchLink>; Cellular Reprogramming Unit, IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.<br /><searchLink fieldCode="AU" term="%22Torrente+I%22">Torrente I</searchLink>; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.<br /><searchLink fieldCode="AU" term="%22Candido+O%22">Candido O</searchLink>; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.<br /><searchLink fieldCode="AU" term="%22Nicita+F%22">Nicita F</searchLink>; Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, P.zza Sant'Onofrio 4, 00165 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Tonduti+D%22">Tonduti D</searchLink>; COALA (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milano, Italy.<br /><searchLink fieldCode="AU" term="%22Bertini+E%22">Bertini E</searchLink>; Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, P.zza Sant'Onofrio 4, 00165 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Marano+M%22">Marano M</searchLink>; Unit of Neurology, Neurophysiology and Neurobiology, Department of Medicine, Campus Bio-Medico of Rome University, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Ferrari+D%22">Ferrari D</searchLink>; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, 20126 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Cereda+C%22">Cereda C</searchLink>; Department of Women, Mothers and Neonatal Care, Children's Hospital 'V. Buzzi', Milano 20154, Italy.<br /><searchLink fieldCode="AU" term="%22Pennuto+M%22">Pennuto M</searchLink>; Veneto Institute of Molecular Medicine (VIMM), 35129 Padova, Italy; Department of Biomedical Sciences (DBS), University of Padova, 35131 Padova, Italy.<br /><searchLink fieldCode="AU" term="%22Vescovi+AL%22">Vescovi AL</searchLink>; Cellular Reprogramming Unit, IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.<br /><searchLink fieldCode="AU" term="%22Carelli+S%22">Carelli S</searchLink>; Pediatric Research Center 'Romeo ed Enrica Invernizzi', Department of Biomedical and Clinical Sciences 'L. Sacco', University of Milano, Milano 20157, Italy.<br /><searchLink fieldCode="AU" term="%22Rosati+J%22">Rosati J</searchLink>; Cellular Reprogramming Unit, IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy. Electronic address: j.rosati@css-mendel.it.
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  Data: <searchLink fieldCode="JN" term="%22101316957%22">Stem cell research</searchLink> [Stem Cell Res] 2024 Aug; Vol. 78, pp. 103468. <i>Date of Electronic Publication: </i>2024 Jun 06.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101316957 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1876-7753 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2218735061%22">18735061 </searchLink><i>NLM ISO Abbreviation: </i>Stem Cell Res <i>Subsets: </i>MEDLINE
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