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
Description
ISSN:1876-7753
DOI:10.1016/j.scr.2024.103468