ID   iPSC982-16 WT
AC   CVCL_C3GS
SY   982.16 WT; iPSC Patient982 Normal WT
DR   GEO; GSM2866257
DR   GEO; GSM2866258
DR   Wikidata; Q114311761
RX   PubMed=29742391;
CC   Population: Caucasian; Austrian.
CC   Characteristics: Due to X chromosome inactivation does not express the mutated allele.
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).
//