ID   iPSC567-24 MUT
AC   CVCL_C3GP
SY   567.24 MUT; iPSC Patient567 RTT
DR   GEO; GSM2866259
DR   GEO; GSM2866261
DR   Wikidata; Q114311758
RX   PubMed=29742391;
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Ter487Trp (c.1461A>G) (p.Ter499Trp, c.1497A>G); ClinVar=VCV000143490; Zygosity=Unspecified (from parent cell line).
CC   Omics: Transcriptomics; RNAseq.
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)
HI   CVCL_4F46 ! GM17567
SX   Female
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 10-04-25; Version: 6
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RX   PubMed=29742391; DOI=10.1016/j.stemcr.2018.04.001; PMCID=PMC5995366;
RA   Ohashi M., Korsakova E., Allen D., Lee P., Fu K., Vargas B.S.,
RA   Cinkornpumin J., Salas C., Park J.C., Germanguz I., Langerman J.,
RA   Chronis C., Kuoy E., Tran S., Xiao X.-S., Pellegrini M., Plath K.,
RA   Lowry W.E.;
RT   "Loss of MECP2 leads to activation of p53 and neuronal senescence.";
RL   Stem Cell Reports 10:1453-1463(2018).
//