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Cellosaurus CPGHi002-A-1 (CVCL_A7IF)

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Cell line name CPGHi002-A-1
Synonyms JYIPS0056-R-3-1
Accession CVCL_A7IF
Resource Identification Initiative To cite this cell line use: CPGHi002-A-1 (RRID:CVCL_A7IF)
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_corrected; p.Arg506Ter (c.1516C>T); ClinVar=VCV000203442; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=33714068).
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 Parent: CVCL_A1AZ (CPGHi002-A)
Sex of cell Female
Age at sampling 10M
Category Induced pluripotent stem cell
Publications

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)

Cross-references
Cell line databases/resources hPSCreg; CPGHi002-A-1
Encyclopedic resources Wikidata; Q107114708
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number5