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Cellosaurus RTTe1-hiPSC #27 (CVCL_A4QQ)

[Text version]
Cell line name RTTe1-hiPSC #27
Synonyms RTTe1 #27
Accession CVCL_A4QQ
Resource Identification Initiative To cite this cell line use: RTTe1-hiPSC #27 (RRID:CVCL_A4QQ)
Comments From: The Hospital for Sick Children; Toronto; Canada.
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.Gly16Glufs*22 (c.47_57delGCGAGGAGGAG); ClinVar=VCV000189770; Zygosity=Heterozygous (PubMed=25644311).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A4QR ! RTTe1-hiPSC #39
CVCL_A4QS ! RTTe1-hiPSC #48
CVCL_A4QT ! RTTe1-hiPSC #96
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=25644311; DOI=10.1016/j.nbd.2015.01.001; PMCID=PMC4380613
Djuric U., Cheung A.Y.-L., Zhang W.-B., Mok R.S.-F., Lai W., Piekna A., Hendry J.A., Ross P.J., Pasceri P., Kim D.S., Salter M.W., Ellis J.
MECP2e1 isoform mutation affects the form and function of neurons derived from Rett syndrome patient iPS cells.
Neurobiol. Dis. 76:37-45(2015)

Cross-references
Cell line databases/resources SKIP; SKIP001032
Encyclopedic resources Wikidata; Q105510816
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6