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Cellosaurus RCi004-B (CVCL_9S48)

[Text version]
Cell line name RCi004-B
Synonyms RCi68; PDSC-3
Accession CVCL_9S48
Resource Identification Initiative To cite this cell line use: RCi004-B (RRID:CVCL_9S48)
Comments From: Censo Biotechnologies, Ltd (Roslin Cells, Ltd); Roslin; United Kingdom.
Omics: Genome sequenced.
Donor information: At sampling donor was not affected with Huntington's disease but at risk for disease (HTT has CAG repeat length greater than or equal to 36).
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[~40] (c.52CAG(~40)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (EBiSC=RCi004-B).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_9S47 ! RCi004-A
Sex of cell Female
Age at sampling 45-49Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) EBiSC; RCi004-B
ECACC; 66540014 - Discontinued
Cell line databases/resources hPSCreg; RCi004-B
SKIP; SKIP002479
Biological sample resources BioSamples; SAMEA3106205
Encyclopedic resources Wikidata; Q54949507
Sequence databases EGA; EGAS00001002755
Entry history
Entry creation23-Feb-2016
Last entry update30-Jan-2024
Version number17