Cellosaurus cell line AKOSi012-A (CVCL

Cross-references
Cell line name	AKOSi012-A
Synonyms	FAHN18_1
Accession	CVCL_C9HW
Resource Identification Initiative	To cite this cell line use: AKOSi012-A (RRID:CVCL_C9HW)
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.Tyr231His (c.691T>C); ClinVar=VCV000241464; Zygosity=Homozygous (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	Male
Age at sampling	7Y
Category	Induced pluripotent stem cell
Publications	PubMed=37573804; DOI=10.1016/j.scr.2023.103178 Fatima Efendic, Saskia Krohn, Hugo Murua Escobar, Sunita Venkateswaran, Steffany A.L. Bennett, Andreas Hermann, Moritz J. Frech; 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; AKOSi012-A
Encyclopedic resources	Wikidata; Q123030671
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3