Cellosaurus logo
expasy logo

Cellosaurus hiPSC DFNA41 patient II-2 (CVCL_E7GE)

[Text][XML][JSON]
Cell line name hiPSC DFNA41 patient II-2
Accession CVCL_E7GE
Resource Identification Initiative To cite this cell line use: hiPSC DFNA41 patient II-2 (RRID:CVCL_E7GE)
Comments Population: Chinese.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Cell type: Epithelial cell of kidney; CL=CL_0002518.
Sequence variations
  • Mutation; HGNC; HGNC:15459; P2RX2; Simple; p.Val60Leu) (c.178G>T); ClinVar= VCV000155762; Zygosity=Heterozygous (PubMed=30819013).
Disease Deafness, autosomal dominant 41 (NCIt: C175700)
Autosomal dominant non-syndromic sensorineural deafness type DFNA (ORDO: Orphanet_90635)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 31Y
Category Induced pluripotent stem cell
Publications

PubMed=30819013; DOI=10.1177/0300060519829990; PMCID=PMC6460615
Yun-Peng Dong, Tao Peng, Wei-Jing Wu, Dong-Hui Tan, Xue-Zhong Liu, Ding-Hua Xie;
Efficient introduction of an isogenic homozygous mutation to induced pluripotent stem cells from a hereditary hearing loss family using CRISPR/Cas9 and single-stranded donor oligonucleotides.
J. Int. Med. Res. 47:1717-1730(2019)

Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1