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Cellosaurus CUIMCi004-A-1 (CVCL_D0DV)

[Text version]
Cell line name CUIMCi004-A-1
Synonyms 1514_1 #1 CL25
Accession CVCL_D0DV
Resource Identification Initiative To cite this cell line use: CUIMCi004-A-1 (RRID:CVCL_D0DV)
Comments From: Columbia University Irving Medical Center; New York; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 8108; OCRL; Simple_corrected; p.Leu713Argfs*28 (c.2136_2139del+1insCT); Zygosity=Hemizygous (hPSCreg=CUIMCi004-A-1).
Disease Oculocerebrorenal syndrome (NCIt: C84940)
Oculocerebrorenal syndrome of Lowe (ORDO: Orphanet_534)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_B5SL (CUIMCi004-A)
Sex of cell Male
Age at sampling 5Y
Category Induced pluripotent stem cell
Cell line databases/resources hPSCreg; CUIMCi004-A-1
Biological sample resources BioSamples; SAMEA114396364
Encyclopedic resources Wikidata; Q123030983
Entry history
Entry creation05-Oct-2023
Last entry update02-May-2024
Version number3