ID   GM16534
AC   CVCL_FA44
DR   CLO; CLO_0017580
DR   Coriell; GM16534
DR   Wikidata; Q54848629
CC   Sequence variation: Mutation; HGNC; HGNC:1787; CDKN2A; Simple; p.Ala76Cysfs*64 (c.225_243del19) (p.Arg90Valfs*76, c.268_286del19) (p16-Leiden); ClinVar=VCV000182411; Zygosity=Unspecified (Coriell=GM16534).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C128801; Hereditary melanoma with CDKN2A mutation
DI   ORDO; Orphanet_618; Familial melanoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   49Y
CA   Transformed cell line
DT   Created: 26-09-16; Last updated: 10-04-25; Version: 12
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