ID   GM20377
AC   CVCL_DA89
DR   CLO; CLO_0029544
DR   Coriell; GM20377
DR   Wikidata; Q54850987
CC   Sequence variation: Mutation; HGNC; HGNC:2073; TPP1; Simple; p.Arg208Ter (c.622C>T); ClinVar=VCV000002643; Zygosity=Heterozygous (Coriell=GM20377).
CC   Sequence variation: Mutation; HGNC; HGNC:2073; TPP1; Simple; p.Gly473Arg (c.1417G>A); ClinVar=VCV000068740; Zygosity=Heterozygous (Coriell=GM20377).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85864; Neuronal ceroid lipofuscinosis type 2
DI   ORDO; Orphanet_168486; Congenital neuronal ceroid lipofuscinosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 13
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