ID   GM20387
AC   CVCL_DA98
DR   CLO; CLO_0029548
DR   Coriell; GM20387
DR   Wikidata; Q54850996
CC   Sequence variation: Mutation; HGNC; HGNC:2073; TPP1; Simple; c.509-1G>C (IVS5-1G>C); ClinVar=VCV000002644; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM20387).
CC   Sequence variation: Mutation; HGNC; HGNC:2073; TPP1; Simple; p.Arg208Ter (c.622C>T); ClinVar=VCV000002643; Zygosity=Heterozygous (Coriell=GM20387).
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   18Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 14
//