Cellosaurus cell line SPG11-12 (CVCL

Cellosaurus SPG11-12 (CVCL_VE49)

Cross-references
Cell line name	SPG11-12
Accession	CVCL_VE49
Resource Identification Initiative	To cite this cell line use: SPG11-12 (RRID:CVCL_VE49)
Comments	Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11226; SPG11; Simple; p.Tyr1012Ter (c.3036C>A); ClinVar=VCV001344088; Zygosity=Heterozygous (PubMed=26971897). Mutation; HGNC; HGNC:11226; SPG11; Simple; p.Ala1933Valfs*18 (c.5798delC); ClinVar=VCV000041328; Zygosity=Heterozygous (PubMed=26971897).
Disease	Spastic paraplegia 11 (NCIt: C148317) Autosomal recessive spastic paraplegia type 11 (ORDO: Orphanet_2822)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_VE48 ! SPG11-11
Sex of cell	Female
Age at sampling	40Y
Category	Induced pluripotent stem cell
Publications	CLPUB00424 Himanshu K. Mishra; Modeling neurodevelopment and cortical dysfunction in SPG11-linked hereditary spastic paraplegia using human induced pluripotent stem cells. Thesis PhD (2016); Friedrich-Alexander-Universitat Erlangen-Nurnberg; Erlangen; Germany PubMed=26971897; DOI=10.1002/ana.24633; PMCID=PMC5084783 Himanshu K. Mishra, Iryna Prots, Steven Havlicek, Zacharias Kohl, Francesc Perez-Branguli, Tom Boerstler, Lukas Anneser, Georgia Minakaki, Holger Wend, Martin Hampl, Marina Leone ...Show all 22 authors... , Martina Bruckner, Jochen Klucken, Andre Reis, Leah Boyer, Gerhard Schuierer, Jurgen Behrens, Angelika Lampert, Felix B. Engel, Fred Harrison Gage, Jurgen Winkler, Beate Winner; Show fewer authors GSK3beta-dependent dysregulation of neurodevelopment in SPG11-patient induced pluripotent stem cell model. Ann. Neurol. 79:826-840(2016)
Cell line databases/resources	SKIP; SKIP001199
Encyclopedic resources	Wikidata; Q54955549
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	12