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Cellosaurus CPGHi001-A-1 (CVCL_B7DM)

[Text version]
Cell line name CPGHi001-A-1
Accession CVCL_B7DM
Resource Identification Initiative To cite this cell line use: CPGHi001-A-1 (RRID:CVCL_B7DM)
Comments From: Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital; Beijing; China.
Population: Chinese; Han.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; 16513; TMC1; Simple_corrected; p.Met418Lys (c.1253T>A); ClinVar=VCV000183668; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=35247837).
Disease Deafness, autosomal dominant 36 (NCIt: C174444)
Autosomal dominant non-syndromic sensorineural deafness type DFNA (ORDO: Orphanet_90635)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A9XF (CPGHi001-A)
Sex of cell Male
Age at sampling 35Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=35247837

Markers:
AmelogeninX,Y
CSF1PO10,11
D2S44110,11
D2S133820,21,24
D3S135815
D5S8189,11
D6S104314,19
D7S8209,12
D8S117910,11
D12S39118,23
D13S3178,11
D16S5399,13
D18S5114,17
D19S43313.2,16.2
D21S1130,30.3
FGA23
Penta D9,13
Penta E14,18
TH017
TPOX8,11
vWA16,17

Run an STR similarity search on this cell line
Publications

PubMed=35247837; DOI=10.1016/j.scr.2022.102736
Wang H.-Y., Luo Y., Li J., Guan J., Yang S.-M., Wang Q.-J.
Generation of a gene corrected human isogenic iPSC line (CPGHi001-A-1) from a hearing loss patient with the TMC1 p.M418K mutation using CRISPR/Cas9.
Stem Cell Res. 60:102736-102736(2022)

Cross-references
Cell line databases/resources hPSCreg; CPGHi001-A-1
Encyclopedic resources Wikidata; Q112929412
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4