Cellosaurus logo
expasy logo

Cellosaurus GM27291 (CVCL_VV62)

[Text][XML][JSON]
Cell line name GM27291
Synonyms GM27291*B; CIMRi001-A
Accession CVCL_VV62
Resource Identification Initiative To cite this cell line use: GM27291 (RRID:CVCL_VV62)
Comments Population: Jewish; Ashkenazi.
Omics: Variations; SNP array analysis.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
Disease Vici syndrome (NCIt: C138174)
Vici syndrome (ORDO: Orphanet_1493)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_LH34 (GM26636)
Children:
CVCL_D2ZJ (GM28930)
Sex of cell Male
Age at sampling 8Y
Category Induced pluripotent stem cell
Publications

PubMed=35700637; DOI=10.1016/j.scr.2022.102833; PMCID=PMC9375524
Matthew W. Mitchell, Christine Grandizio, Nahid Turan, Deborah Vicuna Requesens;
An induced pluripotent stem cell line (CIMRi001-A) from a Vici syndrome donor with a homozygous recessive c.1007A>G (p.Q336R) mutation in the EPG5 gene.
Stem Cell Res. 63:102833-102833(2022)

Cross-references
Cell line collections (Providers) Coriell; GM27291
Cell line databases/resources hPSCreg; CIMRi001-A
Biological sample resources BioSamples; SAMEA10457755
Encyclopedic resources Wikidata; Q93933153
Entry history
Entry creation24-May-2019
Last entry update10-Apr-2025
Version number13