Cellosaurus cell line RCi001-A (CVCL

Cellosaurus RCi001-A (CVCL_9S41)

Cross-references
Cell line name	RCi001-A
Synonyms	RCi88; Thp3C-6; EM3-6
Accession	CVCL_9S41
Resource Identification Initiative	To cite this cell line use: RCi001-A (RRID:CVCL_9S41)
Comments	From: Pfizer, Inc.; New York; USA. From: Roslin Cells, Ltd; Roslin; United Kingdom. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:10597; SCN9A; Simple; p.Val400Met (c.1198G>A); ClinVar=VCV000538468; Zygosity=Heterozygous (PubMed=27099175).
Disease	Erythromelalgia (NCIt: C34593) Primary erythromelalgia (ORDO: Orphanet_90026)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_9S42 ! RCi001-B
Sex of cell	Male
Age at sampling	>10Y
Category	Induced pluripotent stem cell
Publications	PubMed=27099175; DOI=10.1126/scitranslmed.aad7653 Li-Shuang Cao, Aoibhinn McDonnell, Anja Nitzsche, Aristos Alexandrou, Pierre-Philippe Saintot, Alexandre J.C. Loucif, Adam R. Brown, Gareth Young, Malgorzata Mis, Andrew Randall, Stephen George Waxman ...Show all 21 authors... , Philip Stanley, Simon Kirby, Sanela Tarabar, Alexander Gutteridge, Richard Butt, Ruth Mitchell McKernan, Paul J. Whiting, Zahid Ali, James Bilsland, Edward B. Stevens; Show fewer authors Pharmacological reversal of a pain phenotype in iPSC-derived sensory neurons and patients with inherited erythromelalgia. Sci. Transl. Med. 8:335ra56.1-335ra56.12(2016)
Cell line collections (Providers)	EBiSC; RCi001-A ECACC; 66540016 - Discontinued
Cell line databases/resources	hPSCreg; RCi001-A SKIP; SKIP002466
Biological sample resources	BioSamples; SAMEA3105842
Encyclopedic resources	Wikidata; Q54949496
Entry history
Entry creation	23-Feb-2016
Last entry update	19-Dec-2024
Version number	16