ID   IBBISTi007-A
AC   CVCL_D6LY
SY   F26 clone 6; 6F26
DR   BioSamples; SAMEA115158738
DR   hPSCreg; IBBISTi007-A
DR   Wikidata; Q127382077
RX   PubMed=38417376;
CC   From: Simao Jose Teixeira da Rocha; Porto Salvo; Portugal.
CC   Sequence variation: Mutation; HGNC; 7551; MYBPC3; Simple; p.Trp577Ter (c.1731G>A); ClinVar=VCV000180943; Zygosity=Heterozygous (PubMed=38417376).
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_D6LZ ! IBBISTi007-B
SX   Male
AG   48Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38417376; DOI=10.1016/j.scr.2024.103362;
RA   Ribeiro M., Jager J., Furtado M., Carvalho T., Cabral J.M.S.,
RA   Brito D., do Carmo-Fonseca M., Martins S., da Rocha S.J.T.;
RT   "Generation of induced pluripotent stem cell lines from two unrelated
RT   individuals with familial hypertrophic cardiomyopathy carrying MYBPC3
RT   nonsense mutations.";
RL   Stem Cell Res. 76:103362-103362(2024).
//