ID   YCMi010-A
AC   CVCL_D2XT
DR   BioSamples; SAMEA114492644
DR   hPSCreg; YCMi010-A
DR   Wikidata; Q127384758
CC   From: Yonsei University College of Medicine; Seoul; South Korea.
CC   Sequence variation: Mutation; HGNC; HGNC:28472; TMEM43; Simple; c.443-2A>G; Zygosity=Heterozygous; Note=Splice acceptor mutation (hPSCreg=YCMi010-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C173470; Familial arrhythmogenic right ventricular dysplasia 5
DI   ORDO; Orphanet_217656; Familial isolated arrhythmogenic right ventricular dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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