ID   GM22382
AC   CVCL_BU53
DR   Coriell; GM22382
DR   Wikidata; Q54852550
CC   Sequence variation: Mutation; HGNC; HGNC:11577; TAFAZZIN; Simple; p.Phe128Ser (c.383T>C); ClinVar=VCV000042259; Zygosity=Hemizygous (Coriell=GM22382).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84585; Barth syndrome
DI   NCIt; C62798; Restrictive cardiomyopathy
DI   ORDO; Orphanet_111; Barth syndrome
DI   ORDO; Orphanet_217632; Restrictive cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   8Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
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