ID   HIHRSi003-A-1
AC   CVCL_A4EJ
SY   iPSC-KIF1C-/-
DR   hPSCreg; HIHRSi003-A-1
DR   Wikidata; Q105507664
RX   PubMed=33161238;
CC   From: Hertie-Institut fur Klinische Hirnforschung; Tubingen; Germany.
CC   Sequence variation: Mutation; HGNC; 6317; KIF1C; Simple_edited; p.Asp53Alafs*83 (c.158_227del); Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=33161238).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C177252; Autosomal recessive spastic ataxia-2
DI   ORDO; Orphanet_397946; Autosomal spastic paraplegia type 58
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A4EI ! HIHRSi003-A
SX   Female
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 6
//
RX   PubMed=33161238; DOI=10.1016/j.scr.2020.102059;
RA   Nagel M., Mussig S., Hoflinger P., Schols L., Hauser S., Schule R.;
RT   "Generation of the CRISPR/Cas9-mediated KIF1C knock-out human iPSC
RT   line HIHRSi003-A-1.";
RL   Stem Cell Res. 49:102059-102059(2020).
//