ID   WIC05i-127-325
AC   CVCL_EJ73
SY   iPS-R306C-MT
DR   WiCell; wic05i-127-325
DR   Wikidata; Q54994051
RX   PubMed=21074045;
RX   PubMed=21966470;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6990; MECP2; Simple; p.Arg306Cys (c.916C>T) (p.Arg318Cys, c.952C>T); ClinVar=VCV000011824; Zygosity=Hemizygous (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_F181 ! GM11270
SX   Female
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 26-09-16; Last updated: 29-06-23; Version: 11
//
RX   PubMed=21074045; DOI=10.1016/j.cell.2010.10.016;
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).
//
RX   PubMed=21966470; DOI=10.1371/journal.pone.0025255;
RA   Ananiev G.E., Williams E.C., Li H.-D., Chang Q.;
RT   "Isogenic pairs of wild type and mutant induced pluripotent stem cell
RT   (iPSC) lines from Rett syndrome patients as in vitro disease model.";
RL   PLoS ONE 6:E25255-E25255(2011).
//