ID   C7788
AC   CVCL_B3W4
DR   Wikidata; Q110432668
RX   PubMed=9295267;
CC   From: Institute for Basic Research in Developmental Disabilities; Staten Island; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:2073; TPP1; Simple; c.509-1G>C; ClinVar=VCV000002644; Zygosity=Heterozygous (PubMed=9295267).
CC   Sequence variation: Mutation; HGNC; HGNC:2073; TPP1; Simple; p.Arg208Ter (c.622C>T); ClinVar=VCV000002643; Zygosity=Heterozygous (PubMed=9295267).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85864; Neuronal ceroid lipofuscinosis type 2
DI   ORDO; Orphanet_168486; Congenital neuronal ceroid lipofuscinosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Transformed cell line
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=9295267; DOI=10.1126/science.277.5333.1802;
RA   Sleat D.E., Donnelly R.J., Lackland H., Liu C.-G., Sohar I.,
RA   Pullarkat R.K., Lobel P.;
RT   "Association of mutations in a lysosomal protein with classical
RT   late-infantile neuronal ceroid lipofuscinosis.";
RL   Science 277:1802-1805(1997).
//