ID   CPGHi001-A-1
AC   CVCL_B7DM
DR   hPSCreg; CPGHi001-A-1
DR   Wikidata; Q112929412
RX   PubMed=35247837;
CC   From: Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 16513; TMC1; Simple_corrected; p.Met418Lys (c.1253T>A); ClinVar=VCV000183668; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=35247837).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
ST   Source(s): PubMed=35247837
ST   Amelogenin: X,Y
ST   CSF1PO: 10,11
ST   D12S391: 18,23
ST   D13S317: 8,11
ST   D16S539: 9,13
ST   D18S51: 14,17
ST   D19S433: 13.2,16.2
ST   D21S11: 30,30.3
ST   D2S1338: 20,21,24
ST   D2S441: 10,11
ST   D3S1358: 15
ST   D5S818: 9,11
ST   D6S1043: 14,19
ST   D7S820: 9,12
ST   D8S1179: 10,11
ST   FGA: 23
ST   Penta D: 9,13
ST   Penta E: 14,18
ST   TH01: 7
ST   TPOX: 8,11
ST   vWA: 16,17
DI   NCIt; C174444; Deafness, autosomal dominant 36
DI   ORDO; Orphanet_90635; Autosomal dominant non-syndromic sensorineural deafness type DFNA
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A9XF ! CPGHi001-A
SX   Male
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35247837; DOI=10.1016/j.scr.2022.102736;
RA   Wang H.-Y., Luo Y., Li J., Guan J., Yang S.-M., Wang Q.-J.;
RT   "Generation of a gene corrected human isogenic iPSC line
RT   (CPGHi001-A-1) from a hearing loss patient with the TMC1 p.M418K
RT   mutation using CRISPR/Cas9.";
RL   Stem Cell Res. 60:102736-102736(2022).
//