ID   GM23782
AC   CVCL_4T53
DR   Coriell; GM23782
DR   Wikidata; Q54853306
CC   Population: Caucasian; British/German.
CC   Sequence variation: Mutation; HGNC; HGNC:2212; COL6A2; Simple; p.Gly319_Lys333del (c.955-2A>G); ClinVar=VCV000520800; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM23782).
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   54Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 12
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