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Cellosaurus ND39034 (CVCL_Y825)

[Text version]
Cell line name ND39034
Synonyms ND39034*C
Accession CVCL_Y825
Resource Identification Initiative To cite this cell line use: ND39034 (RRID:CVCL_Y825)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4010; FUS; Simple; p.Arg522Arg (c.1566G>A); ClinVar=VCV000540280; Zygosity=Unspecified; Note=Mislocalized protein (from parent cell line).
Disease Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (NCIt: C168750)
Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_Y894 (ND29563)
Sex of cell Male
Age at sampling 37Y
Category Induced pluripotent stem cell
Publications

PubMed=25760436; DOI=10.1371/journal.pone.0118266; PMCID=PMC4356618
Li Y., Balasubramanian U., Cohen D., Zhang P.-W., Mosmiller E., Sattler R., Maragakis N.J., Rothstein J.D.
A comprehensive library of familial human amyotrophic lateral sclerosis induced pluripotent stem cells.
PLoS ONE 10:e0118266.1-e0118266.13(2015)

Cross-references
Cell line collections (Providers) Coriell; ND39034 - Discontinued
NHCDR; ND39034
Cell line databases/resources SKIP; SKIP001084
SKIP; SKIP004713
Encyclopedic resources Wikidata; Q54930102
Entry history
Entry creation10-Apr-2015
Last entry update10-Apr-2025
Version number16