ID   GM22192
AC   CVCL_BU24
DR   Coriell; GM22192
DR   Wikidata; Q54852415
CC   Sequence variation: Mutation; HGNC; HGNC:11577; TAFAZZIN; Simple; p.Arg94Cys (c.280C>T); ClinVar=VCV000202092; Zygosity=Hemizygous (Coriell=GM22192).
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   ORDO; Orphanet_111; Barth syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
//