ID   SCVIi018-A
AC   CVCL_B0PK
SY   SCVI-433; SCVI 433; SCVI433
DR   hPSCreg; SCVIi018-A
DR   Wikidata; Q108821283
RX   PubMed=34798544;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Sequence variation: Mutation; HGNC; 11947; TNNI3; Simple; p.Arg204Cys (c.610C>T); ClinVar=VCV000177631; Zygosity=Heterozygous (PubMed=34798544).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C184989; Familial hypertrophic cardiomyopathy type 7
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   23Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34798544; DOI=10.1016/j.scr.2021.102597;
RA   Zhao S.R., Shen M.-C., Lee C., Zha Y.-J., Guevara J.V., Wheeler M.T.,
RA   Wu J.C.;
RT   "Generation of three induced pluripotent stem cell lines from
RT   hypertrophic cardiomyopathy patients carrying TNNI3 mutations.";
RL   Stem Cell Res. 57:102597-102597(2021).
//