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Cellosaurus HIHRSi003-A-1 (CVCL_A4EJ)

[Text version]
Cell line name HIHRSi003-A-1
Synonyms iPSC-KIF1C-/-
Accession CVCL_A4EJ
Resource Identification Initiative To cite this cell line use: HIHRSi003-A-1 (RRID:CVCL_A4EJ)
Comments From: Hertie-Institut fur Klinische Hirnforschung; Tubingen; Germany.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6317; KIF1C; Simple_edited; p.Asp53Alafs*83 (c.158_227del); Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=33161238).
Disease Autosomal recessive spastic ataxia-2 (NCIt: C177252)
Autosomal spastic paraplegia type 58 (ORDO: Orphanet_397946)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A4EI (HIHRSi003-A)
Sex of cell Female
Age at sampling 24Y
Category Induced pluripotent stem cell
Publications

PubMed=33161238; DOI=10.1016/j.scr.2020.102059
Nagel M., Mussig S., Hoflinger P., Schols L., Hauser S., Schule R.
Generation of the CRISPR/Cas9-mediated KIF1C knock-out human iPSC line HIHRSi003-A-1.
Stem Cell Res. 49:102059-102059(2020)

Cross-references
Cell line databases/resources hPSCreg; HIHRSi003-A-1
Encyclopedic resources Wikidata; Q105507664
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number6