ID   WIC06i-07982-2
AC   CVCL_EJ74
SY   iPS-V247X-WT
DR   WiCell; wic06i-07982-2
DR   Wikidata; Q54994052
RX   PubMed=21966470;
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: 26-09-16; Last updated: 29-06-23; Version: 10
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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).
//