Cellosaurus cell line IBBISTi005-A (CVCL

Cross-references
Cell line name	IBBISTi005-A
Synonyms	F81 (940) clone 5; 5F81
Accession	CVCL_D1G1
Resource Identification Initiative	To cite this cell line use: IBBISTi005-A (RRID:CVCL_D1G1)
Comments	From: Simao Jose Teixeira da Rocha; Porto Salvo; Portugal. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:7551; MYBPC3; Simple; p.Arg495Gln (c.1484G>A); ClinVar=VCV000164113; Zygosity=Heterozygous (PubMed=38104429).
Disease	Familial hypertrophic cardiomyopathy type 4 (NCIt: C133725) Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_D1G2 ! IBBISTi005-B
Sex of cell	Male
Age at sampling	54Y
Category	Induced pluripotent stem cell
Publications	PubMed=38104429; DOI=10.1016/j.scr.2023.103282 Ribeiro M., Martins S., Carvalho T., Furtado M., Cabral J.M.S., Brito D., do Carmo-Fonseca M., da Rocha S.J.T. Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying the MYBPC3 missense c.1484G>A mutation. Stem Cell Res. 74:103282-103282(2024)
Cell line databases/resources	hPSCreg; IBBISTi005-A
Biological sample resources	BioSamples; SAMEA114426148
Encyclopedic resources	Wikidata; Q127382072
Entry history
Entry creation	30-Jan-2024
Last entry update	19-Dec-2024
Version number	4