ID   FJMA0001i-HCM
AC   CVCL_A3ZE
SY   20180803 CQ-C2-P6
DR   Wikidata; Q105506869
RX   PubMed=33388705;
CC   From: Fujian Academy of Medical Sciences; Fuzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:7551; MYBPC3; Simple; p.Cys1124Leufs*25 (c.3369_3370insC); Zygosity=Heterozygous (PubMed=33388705).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=33388705
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D12S391: 21,22
ST   D13S317: 9,12
ST   D16S539: 9
ST   D18S51: 13,18
ST   D19S433: 11,13
ST   D1S1656: 13,18
ST   D21S11: 29,32.2
ST   D2S1338: 21,24
ST   D3S1358: 15,16
ST   D5S818: 11,13
ST   D6S1043: 19,20
ST   D7S820: 10,11
ST   D8S1179: 15
ST   FGA: 19,27
ST   Penta D: 10,13
ST   Penta E: 15
ST   TH01: 7,9
ST   TPOX: 8,9
ST   vWA: 14,18
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   Male
AG   62Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=33388705; DOI=10.1016/j.scr.2020.102144;
RA   Jin J.-J., Lu L.-H., Chen J.-Y., Wang K., Han J.-Y., Xue S.-J.,
RA   Weng G.-X.;
RT   "Generation of an induced pluripotential stem cell (iPSC) line from a
RT   patient with hypertrophic cardiomyopathy carrying myosin binding
RT   protein C (MYBPC3) c.3369-3370 insC mutation.";
RL   Stem Cell Res. 50:102144-102144(2021).
//