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Cellosaurus iPS-SPG5-R486C (CVCL_A4NR)

[Text version]
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
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
Hoflinger P., Theurer Y., Schule R., Schols L., Hauser S.
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)

Cross-references
Encyclopedic resources Wikidata; Q105509699
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7