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Cellosaurus CS03iCTRmut (CVCL_YP65)

[Text version]
Cell line name CS03iCTRmut
Accession CVCL_YP65
Resource Identification Initiative To cite this cell line use: CS03iCTRmut (RRID:CVCL_YP65)
Comments Population: Jewish; Ashkenazi.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10923; SLC16A2; Simple_edited; p.Pro247Leu (c.740C>T); Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=28526555).
Disease Allan-Herndon-Dudley syndrome (NCIt: C118843)
Allan-Herndon-Dudley syndrome (ORDO: Orphanet_59)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_YP64 (CS03iCTR)
Sex of cell Male
Age at sampling 39Y
Category Induced pluripotent stem cell
Publications

PubMed=28526555; DOI=10.1016/j.stem.2017.04.002; PMCID=PMC6659720
Vatine G.D., Al-Ahmad A., Barriga B.K., Svendsen S., Salim A., Garcia L., Garcia V.J., Ho R., Yucer N., Qian T.-C., Lim R.G., Wu J., Thompson L.M., Spivia W.R., Chen Z.-H., Van Eyk J.E., Palecek S.P., Refetoff S., Shusta E.V., Svendsen C.N.
Modeling psychomotor retardation using iPSCs from MCT8-deficient patients indicates a prominent role for the blood-brain barrier.
Cell Stem Cell 20:831-843.e5(2017)

Cross-references
Encyclopedic resources Wikidata; Q93458958
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9