ID   CS01iMCT8
AC   CVCL_YP62
SY   CS01iMCT8-nxx
DR   Wikidata; Q93458942
RX   PubMed=28526555;
WW   Provider; Cedars-Sinai; -; https://biomanufacturing.cedars-sinai.org/product/cs01imct8-nxx/
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:10923; SLC16A2; Simple; p.Pro247Leu (c.740C>T); Zygosity=Hemizygous (PubMed=28526555).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C118843; Allan-Herndon-Dudley syndrome
DI   ORDO; Orphanet_59; Allan-Herndon-Dudley syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2-3Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 10-04-25; Version: 9
//
RX   PubMed=28526555; DOI=10.1016/j.stem.2017.04.002; PMCID=PMC6659720;
RA   Vatine G.D., Al-Ahmad A., Barriga B.K., Svendsen S., Salim A.,
RA   Garcia L., Garcia V.J., Ho R., Yucer N., Qian T.-C., Lim R.G., Wu J.,
RA   Thompson L.M., Spivia W.R., Chen Z.-H., Van Eyk J.E., Palecek S.P.,
RA   Refetoff S., Shusta E.V., Svendsen C.N.;
RT   "Modeling psychomotor retardation using iPSCs from MCT8-deficient
RT   patients indicates a prominent role for the blood-brain barrier.";
RL   Cell Stem Cell 20:831-843.e5(2017).
//