ID   iPS-CTX-R395S
AC   CVCL_A4VG
DR   Wikidata; Q107115465
RX   PubMed=27879219;
CC   From: Hertie Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases, University of Tubingen; Tubingen; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:2605; CYP27A1; Simple; p.Arg395Ser (c.1183C>A); ClinVar=VCV000004261; Zygosity=Homozygous (PubMed=27879219).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84628; Cerebrotendinous xanthomatosis
DI   ORDO; Orphanet_909; Cerebrotendinous xanthomatosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   60Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=27879219; DOI=10.1016/j.scr.2016.09.010;
RA   Hoflinger P., Hauser S., Theurer Y., Weissenberger S., Wilke C.,
RA   Schols L.;
RT   "Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous
RT   xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation.";
RL   Stem Cell Res. 17:433-436(2016).
//