ID   RTTe1-hiPSC #27
AC   CVCL_A4QQ
SY   RTTe1 #27
DR   SKIP; SKIP001032
DR   Wikidata; Q105510816
RX   PubMed=25644311;
CC   From: The Hospital for Sick Children; Toronto; Canada.
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Gly16Glufs*22 (c.47_57delGCGAGGAGGAG); ClinVar=VCV000189770; Zygosity=Heterozygous (PubMed=25644311).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75488; Rett syndrome
DI   ORDO; Orphanet_778; Rett syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4QR ! RTTe1-hiPSC #39
OI   CVCL_A4QS ! RTTe1-hiPSC #48
OI   CVCL_A4QT ! RTTe1-hiPSC #96
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
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RX   PubMed=25644311; DOI=10.1016/j.nbd.2015.01.001; PMCID=PMC4380613;
RA   Djuric U., Cheung A.Y.-L., Zhang W.-B., Mok R.S.-F., Lai W., Piekna A.,
RA   Hendry J.A., Ross P.J., Pasceri P., Kim D.S., Salter M.W., Ellis J.;
RT   "MECP2e1 isoform mutation affects the form and function of neurons
RT   derived from Rett syndrome patient iPS cells.";
RL   Neurobiol. Dis. 76:37-45(2015).
//