Cellosaurus cell line CPGHi002-A (CVCL

Cellosaurus CPGHi002-A (CVCL_A1AZ)

Cross-references
Cell line name	CPGHi002-A
Synonyms	JYIPS0056
Accession	CVCL_A1AZ
Resource Identification Initiative	To cite this cell line use: CPGHi002-A (RRID:CVCL_A1AZ)
Comments	From: Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital; Beijing; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:854; ATP6V1B2; Simple; p.Arg506Ter (c.1516C>T); ClinVar=VCV000203442; Zygosity=Heterozygous (PubMed=32961450).
Disease	Autosomal dominant congenital deafness with onychodystrophy (NCIt: C175240) Autosomal dominant deafness-onychodystrophy syndrome (ORDO: Orphanet_79499)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Children couldn't be retrieved from the API
Sex of cell	Female
Age at sampling	10M
Category	Induced pluripotent stem cell
Publications	PubMed=32961450; DOI=10.1016/j.scr.2020.101986 Xue Gao, Shi-Wei Qiu, Meng-Long Feng, Sha-Sha Huang, Dong-Yang Kang, Ming-Yu Han, Pu Dai, Yong-Yi Yuan; 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 Res. 48:101986-101986(2020) PubMed=33714068; DOI=10.1016/j.scr.2021.102271 Xue Gao, Shi-Wei Qiu, Wei-Qian Wang, Dong-Yang Kang, Ning Su, Pu Dai, Yong-Yi Yuan; Generation of a gene corrected human isogenic iPSC line (CPGHi002-A-1) from a DDOD patient with heterozygous c.1516 C>T mutation in the ATP6V1B2 gene. Stem Cell Res. 53:102271-102271(2021)
Cell line databases/resources	hPSCreg; CPGHi002-A
Biological sample resources	BioSamples; SAMEA7340582
Encyclopedic resources	Wikidata; Q102113716
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	6