ID   GM25948
AC   CVCL_HL27
DR   Coriell; GM25948
DR   Wikidata; Q54854031
CC   Sequence variation: Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Gly12Valfs*2 (c.35delG); ClinVar=VCV000017004; Zygosity=Heterozygous (Coriell=GM25948).
CC   Sequence variation: Mutation; HGNC; HGNC:12403; TTN; Simple; p.Val10952Leu (c.32854G>C) (p.Val13520Leu, c.40558G>C); ClinVar=VCV000130666; Zygosity=Heterozygous (Coriell=GM25948).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   49Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 11
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