Cellosaurus cell line 39b (CVCL

Cross-references
Cell line name	39b
Synonyms	39b-ALS
Accession	CVCL_X725
Resource Identification Initiative	To cite this cell line use: 39b (RRID:CVCL_X725)
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: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	44Y
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)
Encyclopedic resources	Wikidata; Q54585255
Entry history
Entry creation	05-Sep-2014
Last entry update	19-Dec-2024
Version number	16