ID   iPS-SPG5-Y275X
AC   CVCL_A4MS
DR   SKIP; SKIP003039
DR   Wikidata; Q105509701
RX   PubMed=27879220;
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.Tyr275Ter (c.825T>A); ClinVar=VCV000006105; Zygosity=Homozygous (PubMed=27879220).
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   Female
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=27879220; DOI=10.1016/j.scr.2016.09.011;
RA   Hauser S., Hoflinger P., Theurer Y., Rattay T.W., Schols L.;
RT   "Generation of induced pluripotent stem cells (iPSCs) from a
RT   hereditary spastic paraplegia patient carrying a homozygous Y275X
RT   mutation in CYP7B1 (SPG5).";
RL   Stem Cell Res. 17:437-440(2016).
//