ID   IAIi010-A
AC   CVCL_C6Q0
SY   Kif5A 1847 C3; KIF5A_C3
DR   BioSamples; SAMEA111554064
DR   hPSCreg; IAIi010-A
DR   Wikidata; Q117704512
RX   PubMed=36565680;
CC   From: Istituto Auxologico Italiano (IAI)-IRCCS; Milan; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6323; KIF5A; Simple; p.Arg17Gln (c.50G>A); Zygosity=Heterozygous (PubMed=36565680).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C192058; Spastic paraplegia 10
DI   ORDO; Orphanet_100991; Autosomal dominant spastic paraplegia type 10
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   79Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
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RX   PubMed=36565680; DOI=10.1016/j.scr.2022.103008;
RA   Santangelo S., Bossolasco P., Magri S., Colombrita C., Invernizzi S.,
RA   Gellera C., Nanetti L., Di Bella D., Silani V., Taroni F., Ratti A.;
RT   "Generation of an iPSC line from a patient with spastic paraplegia
RT   type 10 carrying a novel mutation in KIF5A gene.";
RL   Stem Cell Res. 66:103008-103008(2023).
//