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Cellosaurus iPSC982-17 MUT (CVCL_C3GT)

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Cell line name iPSC982-17 MUT
Synonyms 982.17 MUT
Accession CVCL_C3GT
Resource Identification Initiative To cite this cell line use: iPSC982-17 MUT (RRID:CVCL_C3GT)
Comments Population: Caucasian; Austrian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Val247Terfs (c.739delG) (p.Met246_Val247insTer) (p.Met258_Val259insTer, c.775delG); ClinVar=VCV000143674; Zygosity=Heterozygous (from parent cell line).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_V341 (GM07982)
Sex of cell Female
Age at sampling 25Y
Category Induced pluripotent stem cell
Publications

PubMed=29742391; DOI=10.1016/j.stemcr.2018.04.001; PMCID=PMC5995366
Minori Ohashi, Elena Korsakova, Denise Allen, Peiyee Lee, Kai Fu, Benni S. Vargas, Jessica Cinkornpumin, Carlos Salas, Jenny C. Park, Igal Germanguz, Justin Langerman ...Show all 18 authors... , Contantinos Chronis, Edward Kuoy, Stephen Tran, Xin-Shu Xiao, Matteo Pellegrini, Kathrin Plath, William E. Lowry; Show fewer authors
Loss of MECP2 leads to activation of p53 and neuronal senescence.
Stem Cell Reports 10:1453-1463(2018)

Cross-references
Encyclopedic resources Wikidata; Q114311762
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number5