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Cellosaurus CPGHi003-A (CVCL_A7IG)

[Text version]
Cell line name CPGHi003-A
Synonyms AIFM1-MSW
Accession CVCL_A7IG
Resource Identification Initiative To cite this cell line use: CPGHi003-A (RRID:CVCL_A7IG)
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; 8768; AIFM1; Simple; p.Arg422Gln (c.1265G>A); ClinVar=VCV000162480; Zygosity=Hemizygous (PubMed=34088005).
Disease X-linked deafness-5, with peripheral neuropathy (NCIt: C180843)
X-linked non-syndromic sensorineural deafness type DFN (ORDO: Orphanet_90625)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 49Y
Category Induced pluripotent stem cell
Publications

PubMed=34088005; DOI=10.1016/j.scr.2021.102376
Li J., Wu K.-W., Guan J., Wang Q.-J., Wang H.-Y.
Generation of a human induced pluripotent stem cell line (CPGHi003-A) from an auditory neuropathy patient with AIFM1 p.R422Q mutation.
Stem Cell Res. 53:102376-102376(2021)

Cross-references
Cell line databases/resources hPSCreg; CPGHi003-A
Encyclopedic resources Wikidata; Q107114710
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5