ID   WIC04i-127-33
AC   CVCL_EJ72
SY   iPS-R306C-WT
DR   WiCell; wic04i-127-33
DR   Wikidata; Q54994049
RX   PubMed=21074045;
RX   PubMed=21966470;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 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: 19-12-24; Version: 12
//
RX   PubMed=21966470; DOI=10.1371/journal.pone.0025255; PMCID=PMC3180386;
RA   Ananiev, Gene E.
RA   Williams, Emily Cunningham
RA   Li, Hong-Da
RA   Chang, Qiang
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:e25255.1-e25255.10(2011).
//
RX   PubMed=21074045; DOI=10.1016/j.cell.2010.10.016; PMCID=PMC3003590;
RA   Marchetto, Maria Carolina N.
RA   Carromeu, Cassiano
RA   Acab, Allan
RA   Yu, Diana X.
RA   Yeo, Gene W.
RA   Mu, Yang-Ling
RA   Chen, Gong
RA   Gage, Fred Harrison
RA   Muotri, Alysson Renato
RT   "A model for neural development and treatment of Rett syndrome using
RT   human induced pluripotent stem cells.";
RL   Cell 143:527-539(2010).
//