ID   GM20382
AC   CVCL_DA94
DR   CLO; CLO_0029555
DR   Coriell; GM20382
DR   Wikidata; Q54850992
CC   Sequence variation: Mutation; HGNC; HGNC:2074; CLN3; Simple; p.Val142Leufs*39 (c.424delG); ClinVar=VCV000056269; Zygosity=Heterozygous (Coriell=GM20382).
CC   Sequence variation: Mutation; HGNC; HGNC:2074; CLN3; Simple; c.461-280_677+382del (1.02-kb del); ClinVar=VCV000003552; Zygosity=Heterozygous (Coriell=GM20382).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61258; Neuronal ceroid lipofuscinosis type 3
DI   ORDO; Orphanet_168486; Congenital neuronal ceroid lipofuscinosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   26Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 15
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