ID   CPGHi002-A-1
AC   CVCL_A7IF
SY   JYIPS0056-R-3-1
DR   hPSCreg; CPGHi002-A-1
DR   Wikidata; Q107114708
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_corrected; p.Arg506Ter (c.1516C>T); ClinVar=VCV000203442; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=33714068).
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)
HI   CVCL_A1AZ ! CPGHi002-A
SX   Female
AG   10M
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=33714068; DOI=10.1016/j.scr.2021.102271;
RA   Gao X., Qiu S.-W., Wang W.-Q., Kang D.-Y., Su N., Dai P., Yuan Y.-Y.;
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).
//