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Cellosaurus CBDTi001-A (CVCL_C6P0)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; CBDTi001-A
Biological sample resources BioSamples; SAMEA111500307
Encyclopedic resources Wikidata; Q117704232
Entry history
Entry creation21-Mar-2023
Last entry update29-Jun-2023
Version number2