Cellosaurus cell line iPS-SPG5-R486C (CVCL

Cross-references
Cell line name	iPS-SPG5-R486C
Accession	CVCL_A4NR
Resource Identification Initiative	To cite this cell line use: iPS-SPG5-R486C (RRID:CVCL_A4NR)
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; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:2652; CYP7B1; Simple; p.Arg486Cys (c.1456C>T); ClinVar=VCV000006107; Zygosity=Homozygous (PubMed=27879216).
Disease	Spastic paraplegia 5A (NCIt: C177250) Autosomal recessive spastic paraplegia type 5A (ORDO: Orphanet_100986)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	47Y
Category	Induced pluripotent stem cell
Publications	PubMed=27879216; DOI=10.1016/j.scr.2016.09.013 Philip Hoflinger, Yvonne Theurer, Rebecca Schule, Ludger Schols, Stefan Hauser; Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5). Stem Cell Res. 17:422-425(2016)
Encyclopedic resources	Wikidata; Q105509699
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	7