ID   UMCUi002-A
AC   CVCL_D6JT
SY   CRYAB-A527G-12C6
DR   BioSamples; SAMEA114569690
DR   hPSCreg; UMCUi002-A
DR   Wikidata; Q127384587
CC   From: Department of Heart and Lungs, University Medical Center Utrecht; Utrecht; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2389; CRYAB; Simple; p.Ter176Ter (c.527G>A); Zygosity=Heterozygous (hPSCreg=UMCUi002-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C206099; Dilated cardiomyopathy-1II
DI   ORDO; Orphanet_154; Familial isolated dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
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