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 Mishra H.K. 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 Mishra H.K., Prots I., Havlicek S., Kohl Z., Perez-Branguli F., Boerstler T., Anneser L., Minakaki G., Wend H., Hampl M., Leone M., Bruckner M., Klucken J., Reis A., Boyer L., Schuierer G., Behrens J., Lampert A., Engel F.B., Gage F.H., Winkler J., Winner B. 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