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Cellosaurus UOCi003-A (CVCL_D0P0)

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Cell line name UOCi003-A
Synonyms GPiPSC 31-1
Accession CVCL_D0P0
Resource Identification Initiative To cite this cell line use: UOCi003-A (RRID:CVCL_D0P0)
Comments From: University of Calgary; Calgary; Canada.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2550; CELF2; Simple; p.Arg506His (c.1517G>A) (p.Arg493His, c.1478G>A) (c.1554G>A); ClinVar=VCV001334733; Zygosity=Heterozygous; Note=De novo mutation (PubMed=38364506).
Disease Developmental and epileptic encephalopathy 97 (NCIt: C206520)
Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_D0P5 (UOCi003-A-1)
Sex of cell Female
Age at sampling 5Y
Category Induced pluripotent stem cell
Publications

PubMed=38364506; DOI=10.1016/j.scr.2024.103344
Michelle Hua, Laura Williams, Kaylan Burns, Shi-Ying Liu, James Ellis, Allan Micheil Innes, Melissa McPherson, Guang Yang;
Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation.
Stem Cell Res. 76:103344-103344(2024)

Cross-references
Cell line databases/resources hPSCreg; UOCi003-A
Biological sample resources BioSamples; SAMEA114284527
Encyclopedic resources Wikidata; Q123033753
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number4