ID   FAMRCi011-B
AC   CVCL_B5H5
SY   ARVC51b
DR   BioSamples; SAMEA9687269
DR   hPSCreg; FAMRCi011-B
DR   Wikidata; Q110432801
CC   From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3756; FLNC; Simple; p.Arg1267Gln (c.3800G>A); ClinVar=VCV000539409; Zygosity=Heterozygous (hPSCreg=FAMRCi011-B).
CC   Omics: Array-based CGH.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C183309; Familial restrictive cardiomyopathy 5
DI   ORDO; Orphanet_75249; Familial isolated restrictive cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_B5H4 ! FAMRCi011-A
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 02-05-24; Version: 4
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