ID   AKOSi010-A
AC   CVCL_C1SP
SY   iPSC FAHN1-S43
DR   hPSCreg; AKOSi010-A
DR   Wikidata; Q114310620
RX   PubMed=35843022;
CC   From: Albrecht-Kossel Institute for Neuroregeneration, University Medicine Rostock; Rostock; Germany.
CC   Sequence variation: Mutation; HGNC; 21197; FA2H; Simple; p.Gly45Arg (c.133G>A); ClinVar=VCV001344330; Zygosity=Heterozygous (PubMed=35843022).
CC   Sequence variation: Mutation; HGNC; 21197; FA2H; Simple; p.His319Arg (c.956A>G); ClinVar=VCV001344335; Zygosity=Heterozygous (PubMed=35843022).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C188989; Spastic paraplegia 35
DI   ORDO; Orphanet_171629; Autosomal recessive spastic paraplegia type 35
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35843022; DOI=10.1016/j.scr.2022.102863;
RA   Efendic F., Volkner C., Krohn S., Murua Escobar H., Venkateswaran S.,
RA   Bennett S.A.L., Hermann A., Frech M.J.;
RT   "Generation of the human iPSC line AKOSi010-A from fibroblasts of a
RT   female FAHN patient, carrying the compound heterozygous mutation
RT   p.Gly45Arg/p.His319Arg.";
RL   Stem Cell Res. 63:102863-102863(2022).
//