ID   iPSC982-18 WT
AC   CVCL_C3GU
SY   982.18 WT
DR   Wikidata; Q114311763
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   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).
//