ID   TAUi001-A
AC   CVCL_ZA77
SY   UTA.09703.HCMJp
DR   BioSamples; SAMEA6880673
DR   hPSCreg; TAUi001-A
DR   Wikidata; Q98133169
CC   From: University of Tampere; Tampere; Finland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 14202; JPH2; Simple; p.Thr161Lys (c.482C>A); ClinVar=VCV000155800; Zygosity=Heterozygous (hPSCreg=TAUi001-A).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C172093; Familial hypertrophic cardiomyopathy type 17
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 7
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