Cellosaurus cell line RB9d (CVCL

Cellosaurus RB9d (CVCL_X726)

Cross-references
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_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	50Y
Category	Induced pluripotent stem cell
Publications	PubMed=24704492; DOI=10.1016/j.stem.2014.03.004; PMCID=PMC4653065 Evangelos Kiskinis, Jackson Sandoe, Luis A. Williams, Gabriella L. Boulting, Rob Moccia, Brian Jason Wainger, Steve S.-W. Han, Theodore Peng, Sebastian Thams, Shravani Mikkilineni, Cassidy Mellin ...Show all 29 authors... , Florian T. Merkle, Brandi N. Davis-Dusenbery, Michael Johannes Ziller, Derek Hayden Oakley, Justin K. Ichida, Stefania Di Costanzo, Nick Atwater, Morgan L. Maeder, Mathew J. Goodwin, James Nemesh, Robert E. Handsaker, Daniel J. Paull, Scott A. Noggle, Steven A. McCarroll, Jae Keith Joung, Clifford J. Woolf, Robert H. Brown, Kevin Carl Eggan; Show fewer authors Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1. Cell Stem Cell 14:781-795(2014)
Encyclopedic resources	Wikidata; Q54949323
Entry history
Entry creation	05-Sep-2014
Last entry update	19-Dec-2024
Version number	14