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Cellosaurus HVRDi014-A (CVCL_WS85)

[Text version]

Cell line name HVRDi014-A
Synonyms TDP43-47d; TDP-43G298S
Accession CVCL_WS85
Resource Identification Initiative To cite this cell line use: HVRDi014-A (RRID:CVCL_WS85)
Comments From: Harvard University; Boston; USA.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 11571; TARDBP; Simple; p.Gly298Ser (c.892G>A); ClinVar=VCV000005232; Zygosity=Heterozygous (PubMed=24507191).
Disease Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia (NCIt: C168752)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 43Y
Category Induced pluripotent stem cell
Publications

PubMed=24507191; DOI=10.1016/j.neuron.2013.12.018
Alami N.H., Smith R.B., Carrasco M.A., Williams L.A., Winborn C.S., Han S.S.W., Kiskinis E., Winborn B., Freibaum B.D., Kanagaraj A., Clare A.J., Badders N.M., Bilican B., Chaum E., Chandran S., Shaw C.E., Eggan K.C., Maniatis T., Taylor J.P.
Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations.
Neuron 81:536-543(2014)

Cross-references
Cell line databases/resources hPSCreg; HVRDi014-A
Biological sample resources BioSamples; SAMEA5574038
Encyclopedic resources Wikidata; Q94310000
Entry history
Entry creation05-Jul-2019
Last entry update17-Mar-2022
Version number6