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Cellosaurus ND39030 (CVCL_Y823)

[Text version]
Cell line name ND39030
Synonyms ND39030*C
Accession CVCL_Y823
Resource Identification Initiative To cite this cell line use: ND39030 (RRID:CVCL_Y823)
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:11179; SOD1; Simple; p.Asp91Ala (c.272A>C) (D90A); ClinVar=VCV000014766; Zygosity=Unspecified (Coriell=ND39030).
Disease Amyotrophic lateral sclerosis 1 (NCIt: C168749)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_T849 (ND29149)
Sex of cell Female
Age at sampling 50Y
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-E0118266(2015)

Cross-references
Cell line collections (Providers) Coriell; ND39030 - Discontinued
NHCDR; ND39030
Cell line databases/resources SKIP; SKIP001082
Encyclopedic resources Wikidata; Q54930100
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number15