ID   IBBISTi006-A
AC   CVCL_D1G3
SY   F93 clone 5; 5F93
DR   BioSamples; SAMEA114560785
DR   hPSCreg; IBBISTi006-A
DR   Wikidata; Q127382074
RX   PubMed=38104429;
CC   From: Simao Jose Teixeira da Rocha; Porto Salvo; Portugal.
CC   Sequence variation: Mutation; HGNC; 7551; MYBPC3; Simple; p.Arg495Gln (c.1484G>A); ClinVar=VCV000164113; Zygosity=Heterozygous (PubMed=38104429).
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)
OI   CVCL_D1G4 ! IBBISTi006-B
SX   Female
AG   44Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 10-09-24; Version: 3
//
RX   PubMed=38104429; DOI=10.1016/j.scr.2023.103282;
RA   Ribeiro M., Martins S., Carvalho T., Furtado M., Cabral J.M.S.,
RA   Brito D., do Carmo-Fonseca M., da Rocha S.J.T.;
RT   "Generation of induced pluripotent stem cell lines from two unrelated
RT   individuals with familial hypertrophic cardiomyopathy carrying the
RT   MYBPC3 missense c.1484G>A mutation.";
RL   Stem Cell Res. 74:103282-103282(2024).
//