Cellosaurus logo
expasy logo

Cellosaurus GM09404 (CVCL_DA29)

[Text version]
Cell line name GM09404
Accession CVCL_DA29
Resource Identification Initiative To cite this cell line use: GM09404 (RRID:CVCL_DA29)
Comments Population: Asian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 2073; TPP1; Simple; p.Ile287Asn (c.860T>A); ClinVar=VCV000068750; Zygosity=Heterozygous (Coriell=GM09404).
Disease Neuronal ceroid lipofuscinosis type 2 (NCIt: C85864)
Congenital neuronal ceroid lipofuscinosis (ORDO: Orphanet_168486)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Children
Category Finite cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=17056595; DOI=10.1074/jbc.M607982200
Jennings J.J. Jr., Zhu J.-H., Rbaibi Y., Luo X., Chu C.T., Kiselyov K.
Mitochondrial aberrations in mucolipidosis type IV.
J. Biol. Chem. 281:39041-39050(2006)

Cross-references
Cell line collections (Providers) Coriell; GM09404
Cell line databases/resources CLO; CLO_0011856
Encyclopedic resources Wikidata; Q54843730
Entry history
Entry creation13-Jul-2016
Last entry update10-Sep-2024
Version number14