Cellosaurus cell line AKOSi011-A (CVCL

Cross-references
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; HGNC:21197; FA2H; Simple; p.Asp35Tyr (c.103G>T); ClinVar=VCV000001044; Zygosity=Heterozygous (PubMed=37573804). Mutation; HGNC; 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)
Cell line databases/resources	hPSCreg; AKOSi011-A
Encyclopedic resources	Wikidata; Q123030670
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3