ID   hiPSC DFNA41 patient II-1
AC   CVCL_E7GD
RX   PubMed=30819013;
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:15459; P2RX2; Simple; p.Val60Leu) (c.178G>T); ClinVar= VCV000155762; Zygosity=Heterozygous (PubMed=30819013).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
CC   Cell type: Epithelial cell of kidney; CL=CL_0002518.
DI   NCIt; C175700; Deafness, autosomal dominant 41
DI   ORDO; Orphanet_90635; Autosomal dominant non-syndromic sensorineural deafness type DFNA
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   54Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
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RX   PubMed=30819013; DOI=10.1177/0300060519829990; PMCID=PMC6460615;
RA   Dong Y.-P., Peng T., Wu W.-J., Tan D.-H., Liu X.-Z., Xie D.-H.;
RT   "Efficient introduction of an isogenic homozygous mutation to induced
RT   pluripotent stem cells from a hereditary hearing loss family using
RT   CRISPR/Cas9 and single-stranded donor oligonucleotides.";
RL   J. Int. Med. Res. 47:1717-1730(2019).
//