ID   CBDTi001-A
AC   CVCL_C6P0
DR   BioSamples; SAMEA111500307
DR   hPSCreg; CBDTi001-A
DR   Wikidata; Q117704232
RX   PubMed=36403549;
CC   From: Institute for Stem Cell Science and Regenerative Medicine; Bangalore; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; 7551; MYBPC3; Simple; c.3628-41_3628-17del25 (delta25); ClinVar=VCV000177677; Zygosity=Heterozygous (PubMed=36403549).
CC   Donor information: At sampling donor was asymptomatic for cardiomyopathy.
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)
SX   Female
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
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RX   PubMed=36403549; DOI=10.1016/j.scr.2022.102978;
RA   Chimata P., Kashyap D.K., Sairam T., Ganesh A., Thangaraj K.,
RA   Purushottam M., Viswanath B., Jain S., Dhandapany P.S.;
RT   "Generation of a new human induced pluripotent stem cell (hiPSC) line
RT   from a South Asian Indian with a MYBPC3(Delta)(25bp) variant.";
RL   Stem Cell Res. 65:102978-102978(2022).
//