ID   iSPG3A-8
AC   CVCL_RM27
DR   SKIP; SKIP001353
DR   Wikidata; Q54898324
RX   PubMed=24908668;
CC   Sequence variation: Mutation; HGNC; HGNC:11231; ATL1; Simple; p.Pro342Ser (c.1024C>T); Zygosity=Heterozygous (PubMed=24908668).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C142893; Spastic paraplegia 3A
DI   ORDO; Orphanet_100984; Autosomal dominant spastic paraplegia type 3
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RM26 ! iSPG3A-6
SX   Female
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 10
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RX   PubMed=24908668; DOI=10.1093/hmg/ddu280; PMCID=PMC4189900;
RA   Zhu P.-P., Denton K.R., Pierson T.M., Li X.-J., Blackstone C.;
RT   "Pharmacologic rescue of axon growth defects in a human iPSC model of
RT   hereditary spastic paraplegia SPG3A.";
RL   Hum. Mol. Genet. 23:5638-5648(2014).
//