Establishment of (JUCTCi007-A) iPSC line from a patient with congenital myasthenic syndrome (CMS) carrying a homozygous mutation p.Arg331Trp (c.991C > T) in the CHRNE gene

Establishment of (JUCTCi007-A) iPSC line from a patient with congenital myasthenic syndrome (CMS) carrying a homozygous mutation p.Arg331Trp (c.991C > T) in the CHRNE gene

Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts obtained from a 24-year-old female diagnosed with hereditary congenital myasthenic syndrome (CMS), caused by p.Arg331Trp (c.991C > T) homozygous mutation in the gene coding for the epsilon subunit of the acetylcholine rec...

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Bibliographic Details
Main Authors: Nidaa A. Ababneh, Ban Al-Kurdi, Dema Ali, Duaa Abuarqoub, Raghda Barham, Abdee T. Ryalat, Abdalla Awidi
Format: Article
Language:English
Published: Elsevier 2020-08-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506120302075

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