ID   CPGHi002-A
AC   CVCL_A1AZ
SY   JYIPS0056
DR   BioSamples; SAMEA7340582
DR   hPSCreg; CPGHi002-A
DR   Wikidata; Q102113716
RX   PubMed=32961450;
RX   PubMed=33714068;
CC   From: Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:854; ATP6V1B2; Simple; p.Arg506Ter (c.1516C>T); ClinVar=VCV000203442; Zygosity=Heterozygous (PubMed=32961450).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C175240; Autosomal dominant congenital deafness with onychodystrophy
DI   ORDO; Orphanet_79499; Autosomal dominant deafness-onychodystrophy syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10M
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 6
CH   CVCL_A7IF ! CPGHi002-A-1
//
RX   PubMed=33714068; DOI=10.1016/j.scr.2021.102271;
RA   Gao, Xue
RA   Qiu, Shi-Wei
RA   Wang, Wei-Qian
RA   Kang, Dong-Yang
RA   Su, Ning
RA   Dai, Pu
RA   Yuan, Yong-Yi
RT   "Generation of a gene corrected human isogenic iPSC line
RT   (CPGHi002-A-1) from a DDOD patient with heterozygous c.1516 C>T
RT   mutation in the ATP6V1B2 gene.";
RL   Stem Cell Res. 53:102271-102271(2021).
//
RX   PubMed=32961450; DOI=10.1016/j.scr.2020.101986;
RA   Gao, Xue
RA   Qiu, Shi-Wei
RA   Feng, Meng-Long
RA   Huang, Sha-Sha
RA   Kang, Dong-Yang
RA   Han, Ming-Yu
RA   Dai, Pu
RA   Yuan, Yong-Yi
RT   "Establishment of human induced pluripotent stem cell line
RT   (CPGHi002-A) from a 10-month-old female patient with DDOD syndrome
RT   carrying a heterozygous c.1516 C > T mutation in ATP6V1B2.";
RL   Stem Cell Res. 48:101986-101986(2020).
//