ID   iPS-SPG4-splice
AC   CVCL_IJ21
DR   Wikidata; Q54898136
RX   PubMed=27789400;
CC   From: German Center for Neurodegenerative Diseases, University of Tubingen; Tubingen; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:11233; SPAST; Simple; c.1687+2T>A; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=27789400).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129981; Spastic paraplegia 4
DI   ORDO; Orphanet_100985; Autosomal dominant spastic paraplegia type 4
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
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RX   PubMed=27789400; DOI=10.1016/j.scr.2016.09.022;
RA   Hauser S., Erzler M., Theurer Y., Schuster S., Schule R., Schols L.;
RT   "Establishment of SPAST mutant induced pluripotent stem cells (iPSCs)
RT   from a hereditary spastic paraplegia (HSP) patient.";
RL   Stem Cell Res. 17:485-488(2016).
//