ID   SCVIi002-A
AC   CVCL_A5FV
SY   SCVI-591; SCVI 591; SCVI591
DR   hPSCreg; SCVIi002-A
DR   Wikidata; Q107116870
RX   PubMed=33743363;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Sequence variation: Mutation; HGNC; 7551; MYBPC3; Simple; c.3330+2T>G; ClinVar=VCV000008621; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=33743363).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C133725; Familial hypertrophic cardiomyopathy type 4
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33743363; DOI=10.1016/j.scr.2021.102279;
RA   Liu L.-C., Shenoy S.P., Jahng J.W.S., Liu Y., Knowles J.W., Zhuge Y.,
RA   Wu J.C.;
RT   "Generation of two heterozygous MYBPC3 mutation-carrying human iPSC
RT   lines, SCVIi001-A and SCVIi002-A, for modeling hypertrophic
RT   cardiomyopathy.";
RL   Stem Cell Res. 53:102279-102279(2021).
//