ID   GM20384
AC   CVCL_DA96
DR   CLO; CLO_0029553
DR   Coriell; GM20384
DR   Wikidata; Q54850994
CC   Sequence variation: Mutation; HGNC; HGNC:2074; CLN3; Simple; c.461-280_677+382del (1.02-kb del); ClinVar=VCV000003552; Zygosity=Heterozygous (Coriell=GM20384).
CC   Sequence variation: Mutation; HGNC; HGNC:2074; CLN3; Simple; c.1198-1G>T (IVS14-1G>T); ClinVar=VCV000056251; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM20384).
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   Male
AG   38Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 15
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