Article
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.
Stem cell research - 1 Oct 2020
Gao Xue, Qiu Shi-Wei, Feng Meng-Long, Huang Sha-Sha, Kang Dong-Yang, Han Ming-Yu, Dai Pu, Yuan Yong-Yi
Abstract excerpt
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 pluripotent stem cell (iPSC) line was generated using the non-integrating episomal vector method from peripheral blood...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.