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Cellosaurus CRFi001-A (CVCL_A1VZ)

[Text version]
Cell line name CRFi001-A
Synonyms iPS GM25383
Accession CVCL_A1VZ
Resource Identification Initiative To cite this cell line use: CRFi001-A (RRID:CVCL_A1VZ)
Comments From: Choroideremia Research Foundation; Springfield; USA.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 1940; CHM; Simple; p.Arg270Ter (c.808C>T); ClinVar=VCV000143078; Zygosity=Hemizygous (from parent cell line).
Disease Choroideremia (NCIt: C34469)
Choroideremia (ORDO: Orphanet_180)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_BW52 (GM25383)
Sex of cell Male
Age at sampling 20Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; CRFi001-A
Encyclopedic resources Wikidata; Q105506718
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number5