Cellosaurus logo
expasy logo

Cellosaurus iPSC982-15 MUT (CVCL_C3GR)

[Text version]
Cell line name iPSC982-15 MUT
Synonyms 982.15 MUT; iPSC Patient982 RTT
Accession CVCL_C3GR
Resource Identification Initiative To cite this cell line use: iPSC982-15 MUT (RRID:CVCL_C3GR)
Comments Population: Caucasian; Austrian.
Omics: Transcriptome analysis by RNAseq.
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
Ohashi M., Korsakova E., Allen D., Lee P., Fu K., Vargas B.S., Cinkornpumin J., Salas C., Park J.C., Germanguz I., Langerman J., Chronis C., Kuoy E., Tran S., Xiao X.-S., Pellegrini M., Plath K., Lowry W.E.
Loss of MECP2 leads to activation of p53 and neuronal senescence.
Stem Cell Reports 10:1453-1463(2018)

Cross-references
Encyclopedic resources Wikidata; Q114311760
Gene expression databases GEO; GSM2866262
GEO; GSM2866263
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number5