Cellosaurus cell line iPS-CTX-R395S (CVCL

Cross-references
Cell line name	iPS-CTX-R395S
Accession	CVCL_A4VG
Resource Identification Initiative	To cite this cell line use: iPS-CTX-R395S (RRID:CVCL_A4VG)
Comments	From: Hertie Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases, University of Tubingen; Tubingen; Germany. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:2605; CYP27A1; Simple; p.Arg395Ser (c.1183C>A); ClinVar=VCV000004261; Zygosity=Homozygous (PubMed=27879219).
Disease	Cerebrotendinous xanthomatosis (NCIt: C84628) Cerebrotendinous xanthomatosis (ORDO: Orphanet_909)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	60Y
Category	Induced pluripotent stem cell
Publications	PubMed=27879219; DOI=10.1016/j.scr.2016.09.010 Philip Hoflinger, Stefan Hauser, Yvonne Theurer, Stefanie Weissenberger, Carlo Wilke, Ludger Schols; Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation. Stem Cell Res. 17:433-436(2016)
Encyclopedic resources	Wikidata; Q107115465
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	6