Cellosaurus logo
expasy logo

Cellosaurus GM26636 (CVCL_LH34)

[Text version]
Cell line name GM26636
Accession CVCL_LH34
Resource Identification Initiative To cite this cell line use: GM26636 (RRID:CVCL_LH34)
Comments Population: Jewish; Ashkenazi.
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 Children:
CVCL_VV62 (GM27291)
Originate from same individual CVCL_LH30 ! GM26249
Sex of cell Male
Age at sampling 8Y
Category Finite cell line
Publications

PubMed=35700637; DOI=10.1016/j.scr.2022.102833; PMCID=PMC9375524
Mitchell M.W., Grandizio C., Turan N., Requesens D.V.
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; GM26636
Encyclopedic resources Wikidata; Q54854137
Entry history
Entry creation15-Nov-2017
Last entry update29-Jun-2023
Version number11