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Cellosaurus CUIMCi004-A (CVCL_B5SL)

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Cell line name CUIMCi004-A
Synonyms 1514_1
Accession CVCL_B5SL
Resource Identification Initiative To cite this cell line use: CUIMCi004-A (RRID:CVCL_B5SL)
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; HGNC:8108; OCRL; Simple; p.Leu713Argfs*28 (c.2136_2139del+1insCT); Zygosity=Hemizygous (PubMed=35074682).
Disease Oculocerebrorenal syndrome (NCIt: C84940)
Oculocerebrorenal syndrome of Lowe (ORDO: Orphanet_534)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_D0DV (CUIMCi004-A-1)
Sex of cell Male
Age at sampling 5Y
Category Induced pluripotent stem cell
Publications

PubMed=35074682; DOI=10.1016/j.scr.2021.102635; PMCID=PMC9970692
Grazia Iannello, Achchhe L. Patel, Dario Sirabella, Barbara Corneo, Vidhu V. Thaker;
Derivation and characterization of the induced pluripotent stem cell line CUIMCi004-A from a patient with a novel frameshift variant in exon 18a of OCRL.
Stem Cell Res. 59:102635-102635(2022)

Cross-references
Cell line databases/resources hPSCreg; CUIMCi004-A
Biological sample resources BioSamples; SAMEA10333981
Encyclopedic resources Wikidata; Q111733148
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number5