ID   iPS-SPG5-R486C
AC   CVCL_A4NR
DR   Wikidata; Q105509699
RX   PubMed=27879216;
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:2652; CYP7B1; Simple; p.Arg486Cys (c.1456C>T); ClinVar=VCV000006107; Zygosity=Homozygous (PubMed=27879216).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C177250; Spastic paraplegia 5A
DI   ORDO; Orphanet_100986; Autosomal recessive spastic paraplegia type 5A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   47Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
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RX   PubMed=27879216; DOI=10.1016/j.scr.2016.09.013;
RA   Hoflinger P., Theurer Y., Schule R., Schols L., Hauser S.;
RT   "Generation of induced pluripotent stem cells (iPSCs) from a
RT   hereditary spastic paraplegia patient carrying a homozygous R486C
RT   mutation in CYP7B1 (SPG5).";
RL   Stem Cell Res. 17:422-425(2016).
//