ID   SPG11-21
AC   CVCL_VE50
DR   SKIP; SKIP001200
DR   Wikidata; Q54955550
RX   CelloPub=CLPUB00424;
RX   PubMed=26971897;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11226; SPG11; Simple; p.Tyr1012Ter (c.3036C>A); ClinVar=VCV001344088; Zygosity=Heterozygous (PubMed=26971897).
CC   Sequence variation: Mutation; HGNC; HGNC:11226; SPG11; Simple; p.Ala1933Valfs*18 (c.5798delC); ClinVar=VCV000041328; Zygosity=Heterozygous (PubMed=26971897).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C148317; Spastic paraplegia 11
DI   ORDO; Orphanet_2822; Autosomal recessive spastic paraplegia type 11
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_VE51 ! SPG11-22
SX   Female
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 13
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RX   CelloPub=CLPUB00424;
RA   Mishra H.K.;
RT   "Modeling neurodevelopment and cortical dysfunction in SPG11-linked
RT   hereditary spastic paraplegia using human induced pluripotent stem
RT   cells.";
RL   Thesis PhD (2016); Friedrich-Alexander-Universitat Erlangen-Nurnberg; Erlangen; Germany.
//
RX   PubMed=26971897; DOI=10.1002/ana.24633; PMCID=PMC5084783;
RA   Mishra H.K., Prots I., Havlicek S., Kohl Z., Perez-Branguli F.,
RA   Boerstler T., Anneser L., Minakaki G., Wend H., Hampl M., Leone M.,
RA   Bruckner M., Klucken J., Reis A., Boyer L., Schuierer G., Behrens J.,
RA   Lampert A., Engel F.B., Gage F.H., Winkler J., Winner B.;
RT   "GSK3beta-dependent dysregulation of neurodevelopment in SPG11-patient
RT   induced pluripotent stem cell model.";
RL   Ann. Neurol. 79:826-840(2016).
//