ID   iPSC982-15 MUT
AC   CVCL_C3GR
SY   982.15 MUT; iPSC Patient982 RTT
DR   GEO; GSM2866262
DR   GEO; GSM2866263
DR   Wikidata; Q114311760
RX   PubMed=29742391;
CC   Population: Caucasian; Austrian.
CC   Sequence variation: Mutation; HGNC; 6990; MECP2; Simple; p.Val247Terfs (c.739delG) (p.Met246_Val247insTer) (p.Met258_Val259insTer, c.775delG); ClinVar=VCV000143674; Zygosity=Heterozygous (from parent cell line).
CC   Omics: Transcriptome analysis by 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_V341 ! GM07982
SX   Female
AG   25Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
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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).
//