ID   GM09404
AC   CVCL_DA29
DR   CLO; CLO_0011856
DR   Coriell; GM09404
DR   Wikidata; Q54843730
RX   CelloPub=CLPUB00447;
RX   PubMed=17056595;
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; 2073; TPP1; Simple; p.Ile287Asn (c.860T>A); ClinVar=VCV000068750; Zygosity=Heterozygous (Coriell=GM09404).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C85864; Neuronal ceroid lipofuscinosis type 2
DI   ORDO; Orphanet_228349; CLN2 disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Children
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 30-01-24; Version: 13
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=17056595; DOI=10.1074/jbc.M607982200;
RA   Jennings J.J. Jr., Zhu J.-H., Rbaibi Y., Luo X., Chu C.T., Kiselyov K.;
RT   "Mitochondrial aberrations in mucolipidosis type IV.";
RL   J. Biol. Chem. 281:39041-39050(2006).
//