ID   IBBISTi007-B
AC   CVCL_D6LZ
SY   F26 clone 2; 2F26
DR   BioSamples; SAMEA115160098
DR   hPSCreg; IBBISTi007-B
DR   Wikidata; Q127382078
RX   PubMed=38417376;
CC   From: Instituto de Medicina Molecular Joao Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa; Lisboa; Portugal.
CC   Sequence variation: Mutation; HGNC; 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_D6LY ! IBBISTi007-A
SX   Male
AG   48Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 14-08-25; Version: 4
//
RX   PubMed=38417376; DOI=10.1016/j.scr.2024.103362;
RA   Ribeiro, Marta
RA   Jager, Joanna
RA   Furtado, Marta
RA   Carvalho, Teresa
RA   Cabral, Joaquim Manuel Sampaio
RA   Brito, Dulce
RA   do Carmo-Fonseca, Maria
RA   Martins, Sandra
RA   da Rocha, Simao Jose Teixeira
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).
//