ID   GM16080
AC   CVCL_DA35
DR   CLO; CLO_0018757
DR   Coriell; GM16080
DR   Wikidata; Q54848310
CC   Sequence variation: Mutation; HGNC; HGNC:9325; PPT1; Simple; p.Thr75Pro (c.223A>C); ClinVar=VCV000008900; Zygosity=Heterozygous (Coriell=GM16080).
CC   Sequence variation: Mutation; HGNC; HGNC:9325; PPT1; Simple; p.Arg151Ter (c.451C>T); ClinVar=VCV000008904; Zygosity=Heterozygous (Coriell=GM16080).
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   17Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 14
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