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Cellosaurus RB9d (CVCL_X726)

[Text version]
Cell line name RB9d
Accession CVCL_X726
Resource Identification Initiative To cite this cell line use: RB9d (RRID:CVCL_X726)
Comments Derived from site: In situ; Forearm, skin, dermis; UBERON=UBERON_0003399+UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 11179; SOD1; Simple; p.Ala5Val (c.14C>T) (A4V); ClinVar=VCV000014763; Zygosity=Unspecified (PubMed=24704492).
Disease Amyotrophic lateral sclerosis 1 (NCIt: C168749)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 50Y
Category Induced pluripotent stem cell
Publications

PubMed=24704492; DOI=10.1016/j.stem.2014.03.004
Kiskinis E., Sandoe J., Williams L.A., Boulting G.L., Moccia R., Wainger B.J., Han S., Peng T., Thams S., Mikkilineni S., Mellin C., Merkle F.T., Davis-Dusenbery B.N., Ziller M.J., Oakley D.H., Ichida J.K., Di Costanzo S., Atwater N., Maeder M.L., Goodwin M.J., Nemesh J., Handsaker R.E., Paull D.J., Noggle S.A., McCarroll S.A., Joung J.K., Woolf C.J., Brown R.H., Eggan K.C.
Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.
Cell Stem Cell 14:781-795(2014)

Cross-references
Encyclopedic resources Wikidata; Q54949323
Entry history
Entry creation05-Sep-2014
Last entry update29-Jun-2023
Version number12