ID   GM23298
AC   CVCL_F180
SY   GM23298*A; R306C-iPS
DR   BioSample; SAMN00806719
DR   Coriell; GM23298
DR   SKIP; SKIP000188
DR   SKIP; SKIP000704
DR   SKIP; SKIP004354
DR   Wikidata; Q54852977
RX   PubMed=19404254;
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=Heterozygous (Coriell=GM23298).
CC   Discontinued: Coriell; GM23298; probable.
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: 22-10-12; Last updated: 19-12-24; Version: 23
//
RX   PubMed=19404254; DOI=10.1038/nmeth.1325;
RA   Hotta A., Cheung A.Y.-L., Farra N., Vijayaragavan K., Seguin C.A.,
RA   Draper J.S., Pasceri P., Maksakova I.A., Mager D.L., Rossant J.,
RA   Bhatia M., Ellis J.;
RT   "Isolation of human iPS cells using EOS lentiviral vectors to select
RT   for pluripotency.";
RL   Nat. Methods 6:370-376(2009).
//