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Cellosaurus CPGHi002-A (CVCL_A1AZ)

[Text version]
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; 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:
CVCL_A7IF (CPGHi002-A-1)
Sex of cell Female
Age at sampling 10M
Category Induced pluripotent stem cell
Publications

PubMed=32961450; DOI=10.1016/j.scr.2020.101986
Gao X., Qiu S.-W., Feng M.-L., Huang S.-S., Kang D.-Y., Han M.-Y., Dai P., Yuan Y.-Y.
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
Gao X., Qiu S.-W., Wang W.-Q., Kang D.-Y., Su N., Dai P., Yuan Y.-Y.
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
Biological sample resources BioSamples; SAMEA7340582
Encyclopedic resources Wikidata; Q102113716
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number5