Cellosaurus cell line HVRDi014-A (CVCL

Cellosaurus HVRDi014-A (CVCL_WS85)

Cross-references
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 site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 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) Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
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; PMCID=PMC3939050 Nael H. Alami, Rebecca B. Smith, Monica A. Carrasco, Luis A. Williams, Christina S. Winborn, Steve S.-W. Han, Evangelos Kiskinis, Brett Winborn, Brian D. Freibaum, Anderson Kanagaraj, Alison J. Clare ...Show all 19 authors... , Nisha M. Badders, Bilada Bilican, Edward Chaum, Siddharthan Chandran, Christopher Edward Dennistoun Shaw, Kevin Carl Eggan, Tom Maniatis, J. Paul Taylor; Show fewer authors Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations. Neuron 81:536-543(2014)
Cell line databases/resources	hPSCreg; HVRDi014-A
Biological sample resources	BioSamples; SAMEA5574038
Encyclopedic resources	Wikidata; Q94310000
Entry history
Entry creation	05-Jul-2019
Last entry update	10-Apr-2025
Version number	10