ID   GM20378
AC   CVCL_DA90
DR   CLO; CLO_0029559
DR   Coriell; GM20378
DR   Wikidata; Q54850988
CC   Sequence variation: Mutation; HGNC; HGNC:2073; TPP1; Simple; c.509-1G>A (IVS5-1G>A); ClinVar=VCV000207574; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM20378).
CC   Sequence variation: Mutation; HGNC; HGNC:2073; TPP1; Simple; c.887-10A>G (IVS7-10A>G); ClinVar=VCV000002649; Zygosity=Heterozygous (Coriell=GM20378).
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   Female
AG   16Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 14
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