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Cellosaurus GM16486 (CVCL_DA47)

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Cell line name GM16486
Synonyms CABM020
Accession CVCL_DA47
Resource Identification Initiative To cite this cell line use: GM16486 (RRID:CVCL_DA47)
Comments 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.Arg127Gln (c.380G>A); ClinVar=VCV000068746; Zygosity=Heterozygous (Coriell=GM16486).
  • Mutation; HGNC; HGNC:2073; TPP1; Simple; c.509-1G>C (IVS5-1G>C); ClinVar=VCV000002644; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM16486).
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_C7L1 (HT264A)CVCL_C7L2 (HT264B)
Sex of cell Male
Age at sampling Age unspecified
Category Finite cell line
Publications

PubMed=29631617; DOI=10.1186/s13023-018-0798-2; PMCID=PMC5891977
Ni Sima, Rong Li, Wei Huang, Miao Xu, Jeanette K. Beers, Ji-Zhong Zou, Steven A. Titus, Elizabeth A. Ottinger, Juan Jose Marugan, Xing Xie, Wei Zheng;
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; GM16486
Cell line databases/resources CLO; CLO_0017517
Encyclopedic resources Wikidata; Q54848592
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number15