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Cellosaurus AKOSi011-A (CVCL_C9HV)

[Text version]
Cell line name AKOSi011-A
Synonyms FAHN13_1
Accession CVCL_C9HV
Resource Identification Initiative To cite this cell line use: AKOSi011-A (RRID:CVCL_C9HV)
Comments From: Albrecht-Kossel Institute for Neuroregeneration, University Medicine Rostock; Rostock; Germany.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 21197; FA2H; Simple; p.Asp35Tyr (c.103G>T); ClinVar=VCV000001044; Zygosity=Heterozygous (PubMed=37573804).
  • Mutation; HGNC; 21197; FA2H; Simple; p.Pro65Ser (c.193C>T); Zygosity=Heterozygous (PubMed=37573804).
Disease Spastic paraplegia 35 (NCIt: C188989)
Autosomal recessive spastic paraplegia type 35 (ORDO: Orphanet_171629)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 12Y
Category Induced pluripotent stem cell
Publications

PubMed=37573804; DOI=10.1016/j.scr.2023.103178
Efendic F., Krohn S., Murua Escobar H., Venkateswaran S., Bennett S.A.L., Hermann A., Frech M.J.
Generation of the human iPSC lines AKOSi011-A carrying the mutation p.Pro65Ser/p.Asp35T and AKOSi012-A, carrying the mutation p.Tyr231His, derived from FAHN patient fibroblasts.
Stem Cell Res. 71:103178-103178(2023)

Cross-references
Cell line databases/resources hPSCreg; AKOSi011-A
Encyclopedic resources Wikidata; Q123030670
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2