Cellosaurus cell line AKOSi010-A (CVCL

Cross-references
Cell line name	AKOSi010-A
Synonyms	iPSC FAHN1-S43
Accession	CVCL_C1SP
Resource Identification Initiative	To cite this cell line use: AKOSi010-A (RRID:CVCL_C1SP)
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.Gly45Arg (c.133G>A); ClinVar=VCV001344330; Zygosity=Heterozygous (PubMed=35843022). Mutation; HGNC; HGNC:21197; FA2H; Simple; p.His319Arg (c.956A>G); ClinVar=VCV001344335; Zygosity=Heterozygous (PubMed=35843022).
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	24Y
Category	Induced pluripotent stem cell
Publications	PubMed=35843022; DOI=10.1016/j.scr.2022.102863 Efendic F., Volkner C., Krohn S., Murua Escobar H., Venkateswaran S., Bennett S.A.L., Hermann A., Frech M.J. Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg. Stem Cell Res. 63:102863-102863(2022)
Cell line databases/resources	hPSCreg; AKOSi010-A
Encyclopedic resources	Wikidata; Q114310620
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5