ID   UMCGi009-A
AC   CVCL_ZX65
SY   PLN2-C2
DR   BioSamples; SAMEA7071386
DR   hPSCreg; UMCGi009-A
DR   Wikidata; Q102115074
CC   From: University Medical Center Groningen; Groningen; Netherlands.
CC   Sequence variation: Mutation; HGNC; 9080; PLN; Simple; p.Arg14del (c.37_39AGA[1]) (c.40_42delAGA) (R14del); ClinVar=VCV000044580; Zygosity=Heterozygous (hPSCreg=UMCGi009-A).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C173625; Dilated cardiomyopathy-1P
DI   ORDO; Orphanet_154; Familial isolated dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 7
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