ID   KSCBi018-A-1
AC   CVCL_C1TV
SY   hiPSC-TPM1_KI; YUCMi019-A-1
DR   hPSCreg; KSCBi018-A-1
DR   Wikidata; Q114311854
RX   PubMed=35917600;
CC   From: National Institute of Health, Korea-National Stem Cell Bank (KSCB); Cheongwon-gun; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; 12010; TPM1; Simple_edited; p.Glu192Lys (c.574G>A); ClinVar=VCV000031882; Zygosity=Heterozygous; Note=By CRISPR/Cas9. The cell also contains c.576G>A which is a silent mutation (PubMed=35917600).
CC   Derived from site: In situ; Umbilical cord blood; UBERON=UBERON_0012168.
DI   NCIt; C182076; Familial hypertrophic cardiomyopathy type 3
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_WR33 ! CMC-hiPSC-011
SX   Male
AG   <1D
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
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RX   PubMed=35917600; DOI=10.1016/j.scr.2022.102878;
RA   Kang J.-Y., Mun D., Chun Y., Kim H., Yun N., Lee S.-H., Joung B.;
RT   "Generation of a heterozygous TPM1-E192K knock-in human induced
RT   pluripotent stem cell line using CRISPR/Cas9 system.";
RL   Stem Cell Res. 63:102878-102878(2022).
//