Cellosaurus logo
expasy logo

Cellosaurus RB8B (CVCL_WR50)

[Text version]
Cell line name RB8B
Accession CVCL_WR50
Resource Identification Initiative To cite this cell line use: RB8B (RRID:CVCL_WR50)
Comments From: Harvard University; Boston; USA.
Derived from site: In situ; Forearm, skin, dermis; UBERON=UBERON_0003403+UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (PubMed=24704492).
Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (NCIt: C168756)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 51Y
Category Induced pluripotent stem cell
Publications

PubMed=24704492; DOI=10.1016/j.stem.2014.03.004; PMCID=PMC4653065
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; Q98128837
Entry history
Entry creation05-Jul-2019
Last entry update19-Dec-2024
Version number10