Cellosaurus cell line RB8B (CVCL

Cellosaurus RB8B (CVCL_WR50)

Cross-references
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) Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
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 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; Q98128837
Entry history
Entry creation	05-Jul-2019
Last entry update	10-Apr-2025
Version number	11