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Cellosaurus GM16485 (CVCL_DA46)

[Text version]
Cell line name GM16485
Synonyms CABM011
Accession CVCL_DA46
Resource Identification Initiative To cite this cell line use: GM16485 (RRID:CVCL_DA46)
Comments Population: Latino or Hispanic.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2073; TPP1; Simple; p.Arg127Ter (c.379C>T); ClinVar=VCV000207569; Zygosity=Heterozygous (Coriell=GM16485).
  • Mutation; HGNC; HGNC:2073; TPP1; Simple; p.Arg208Ter (c.622C>T); ClinVar=VCV000002643; Zygosity=Heterozygous (Coriell=GM16485).
Disease Neuronal ceroid lipofuscinosis type 2 (NCIt: C85864)
Congenital neuronal ceroid lipofuscinosis (ORDO: Orphanet_168486)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C7KX (HT140A)CVCL_C7KY (HT140E)
Sex of cell Female
Age at sampling Age unspecified
Category Finite cell line
Publications

PubMed=29631617; DOI=10.1186/s13023-018-0798-2; PMCID=PMC5891977
Sima N., Li R., Huang W., Xu M., Beers J.K., Zou J.-Z., Titus S.A., Ottinger E.A., Marugan J.J., Xie X., Zheng W.
Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.
Orphanet J. Rare Dis. 13:54.1-54.14(2018)

Cross-references
Cell line collections (Providers) Coriell; GM16485
Cell line databases/resources CLO; CLO_0017518
Encyclopedic resources Wikidata; Q54848591
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number15