ID   GM16082
AC   CVCL_DA37
DR   CLO; CLO_0018753
DR   Coriell; GM16082
DR   Wikidata; Q54848312
CC   Sequence variation: Mutation; HGNC; HGNC:9325; PPT1; Simple; p.Gln177Glu (c.529C>G); ClinVar=VCV000056198; Zygosity=Heterozygous (Coriell=GM16082).
CC   Sequence variation: Mutation; HGNC; HGNC:9325; PPT1; Simple; p.Trp296Ter (c.888G>A); ClinVar=VCV000056219; Zygosity=Heterozygous (Coriell=GM16082).
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   Female
AG   12Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 14
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