ID   RTT-1155del32 C15
AC   CVCL_YL26
SY   iPSC-RTT clone 15
DR   GEO; GSM525409
DR   GEO; GSM525410
DR   GEO; GSM525411
DR   Wikidata; Q98129209
RX   Patent=US9696297;
RX   PubMed=21074045;
CC   Population: Jewish.
CC   Sequence variation: Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Leu386Argfs*8 (c.1157_1188del32) (p.Leu398Argfs*8, c.1193_1224del32) (1155del32); ClinVar=VCV000143366; Zygosity=Unspecified (PubMed=21074045).
CC   Omics: Transcriptome analysis by microarray.
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_4F14 ! GM11272
SX   Female
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 9
//
RX   Patent=US9696297;
RA   Marchetto M.C.N., Gage F.H., Muotri A.R.;
RT   "Method for preparing an X chromosome inactivated female human neural
RT   cell.";
RL   Patent number US9696297, 04-Jul-2017.
//
RX   PubMed=21074045; DOI=10.1016/j.cell.2010.10.016; PMCID=PMC3003590;
RA   Marchetto M.C.N., Carromeu C., Acab A., Yu D.X., Yeo G.W., Mu Y.-L.,
RA   Chen G., Gage F.H., Muotri A.R.;
RT   "A model for neural development and treatment of Rett syndrome using
RT   human induced pluripotent stem cells.";
RL   Cell 143:527-539(2010).
//