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Cellosaurus RTTe1-hiPSC #48 (CVCL_A4QS)

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Cell line name RTTe1-hiPSC #48
Synonyms RTTe1 #48
Accession CVCL_A4QS
Resource Identification Initiative To cite this cell line use: RTTe1-hiPSC #48 (RRID:CVCL_A4QS)
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_A4QQ ! RTTe1-hiPSC #27
CVCL_A4QR ! RTTe1-hiPSC #39
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
Ugljesa Djuric, Aaron Y.-L. Cheung, Wen-Bo Zhang, Rebecca S.-F. Mok, Wesley Lai, Alina Piekna, Jason A. Hendry, P. Joel Ross, Peter Pasceri, Dong Soo Kim, Michael W. Salter, James Ellis;
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; SKIP001034
Encyclopedic resources Wikidata; Q105510823
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6