Cellosaurus cell line CBDTi001-A (CVCL

Cross-references
Cell line name	CBDTi001-A
Accession	CVCL_C6P0
Resource Identification Initiative	To cite this cell line use: CBDTi001-A (RRID:CVCL_C6P0)
Comments	From: Institute for Stem Cell Science and Regenerative Medicine; Bangalore; India. Population: Indian. Donor information: At sampling donor was asymptomatic for cardiomyopathy. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:7551; MYBPC3; Simple; c.3628-41_3628-17del25 (delta25); ClinVar=VCV000177677; Zygosity=Heterozygous (PubMed=36403549).
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)
Sex of cell	Female
Age at sampling	45Y
Category	Induced pluripotent stem cell
Publications	PubMed=36403549; DOI=10.1016/j.scr.2022.102978 Chimata P., Kashyap D.K., Sairam T., Ganesh A., Thangaraj K., Purushottam M., Viswanath B., Jain S., Dhandapany P.S. Generation of a new human induced pluripotent stem cell (hiPSC) line from a South Asian Indian with a MYBPC3(Delta25bp) variant. Stem Cell Res. 65:102978-102978(2022)
Cell line databases/resources	hPSCreg; CBDTi001-A
Biological sample resources	BioSamples; SAMEA111500307
Encyclopedic resources	Wikidata; Q117704232
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	3