Cellosaurus cell line CS03iCTRmut (CVCL

Cross-references
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 Gad D. Vatine, Abraham Al-Ahmad, Bianca K. Barriga, Soshana Svendsen, Ariel Salim, Leslie Garcia, Veronica J. Garcia, Ritchie Ho, Nur Yucer, Tong-Cheng Qian, Ryan G. Lim ...Show all 20 authors... , Jie Wu, Leslie M. Thompson, Weston R. Spivia, Zhao-Hui Chen, Jennifer Eileen Van Eyk, Sean P. Palecek, Samuel Refetoff, Eric V. Shusta, Clive N. Svendsen; Show fewer authors 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)
Encyclopedic resources	Wikidata; Q93458958
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	9