ID   GM20379
AC   CVCL_DA91
DR   CLO; CLO_0029558
DR   Coriell; GM20379
DR   Wikidata; Q54850989
CC   Sequence variation: Mutation; HGNC; HGNC:9325; PPT1; Simple; p.Gly42Glu (c.125G>A); ClinVar=VCV000056179; Zygosity=Heterozygous (Coriell=GM20379).
CC   Sequence variation: Mutation; HGNC; HGNC:9325; PPT1; Simple; p.Arg122Trp (c.364A>T); ClinVar=VCV000008899; Zygosity=Heterozygous (Coriell=GM20379).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85861; Neuronal ceroid lipofuscinosis type 1
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: 13
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