Cellosaurus cell line IBBISTi007-A (CVCL

Cross-references
Cell line name	IBBISTi007-A
Synonyms	F26 clone 6; 6F26
Accession	CVCL_D6LY
Resource Identification Initiative	To cite this cell line use: IBBISTi007-A (RRID:CVCL_D6LY)
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.Trp577Ter (c.1731G>A); ClinVar=VCV000180943; Zygosity=Heterozygous (PubMed=38417376).
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_D6LZ ! IBBISTi007-B
Sex of cell	Male
Age at sampling	48Y
Category	Induced pluripotent stem cell
Publications	PubMed=38417376; DOI=10.1016/j.scr.2024.103362 Ribeiro M., Jager J., Furtado M., Carvalho T., Cabral J.M.S., Brito D., do Carmo-Fonseca M., Martins S., da Rocha S.J.T. Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations. Stem Cell Res. 76:103362-103362(2024)
Cell line databases/resources	hPSCreg; IBBISTi007-A
Biological sample resources	BioSamples; SAMEA115158738
Encyclopedic resources	Wikidata; Q127382077
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3