ID   CPGHi001-A
AC   CVCL_A9XF
SY   TMC1-QRQ
DR   hPSCreg; CPGHi001-A
DR   Wikidata; Q102113715
RX   PubMed=33217648;
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; HGNC:16513; TMC1; Simple; p.Met418Lys (c.1253T>A); ClinVar=VCV000183668; Zygosity=Heterozygous (PubMed=33217648).
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)
SX   Male
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 7
CH   CVCL_B7DM ! CPGHi001-A-1
//
RX   PubMed=35247837; DOI=10.1016/j.scr.2022.102736;
RA   Wang, Hong-Yang
RA   Luo, Yi
RA   Li, Jin
RA   Guan, Jing
RA   Yang, Shi-Ming
RA   Wang, Qiu-Ju
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).
//
RX   PubMed=33217648; DOI=10.1016/j.scr.2020.101982;
RA   Wang, Hong-Yang
RA   Wu, Kai-Wen
RA   Guan, Jing
RA   Wang, Qiu-Ju
RT   "Generation of a human induced pluripotent stem cell line (CPGHi001-A)
RT   from a hearing loss patient with the TMC1 p.M418K mutation.";
RL   Stem Cell Res. 49:101982-101982(2020).
//