Establishment of human induced pluripotent stem cell line (CPGHi002-A) from a 10-month-old female patient with DDOD syndrome carrying a heterozygous c.1516 C > T mutation in ATP6V1B2

Establishment of human induced pluripotent stem cell line (CPGHi002-A) from a 10-month-old female patient with DDOD syndrome carrying a heterozygous c.1516 C > T mutation in ATP6V1B2

Dominant deafness-onychodystrophy (DDOD) syndrome is a rare, autosomal dominant inherited disorder with no concrete therapies in human. We previously identified c.1516 C > T (p.Arg506*) in ATP6V1B2 as cause of DDOD syndrome, accounting for all cases of this genetic disorder. The induced pluripote...

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Bibliographic Details
Main Authors: Xue Gao, Shi–Wei Qiu, Meng-Long Feng, Sha-Sha Huang, Dong-Yang Kang, Ming-Yu Han, Pu Dai, Yong–Yi Yuan
Format: Article
Language:English
Published: Elsevier 2020-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506120302877

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http://www.sciencedirect.com/science/article/pii/S1873506120302877

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