ID   AKOSi011-A
AC   CVCL_C9HV
SY   FAHN13_1
DR   hPSCreg; AKOSi011-A
DR   Wikidata; Q123030670
RX   PubMed=37573804;
CC   From: Albrecht-Kossel Institute for Neuroregeneration, University Medicine Rostock; Rostock; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:21197; FA2H; Simple; p.Asp35Tyr (c.103G>T); ClinVar=VCV000001044; Zygosity=Heterozygous (PubMed=37573804).
CC   Sequence variation: Mutation; HGNC; HGNC:21197; FA2H; Simple; p.Pro65Ser (c.193C>T); Zygosity=Heterozygous (PubMed=37573804).
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   12Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=37573804; DOI=10.1016/j.scr.2023.103178;
RA   Efendic F., Krohn S., Murua Escobar H., Venkateswaran S.,
RA   Bennett S.A.L., Hermann A., Frech M.J.;
RT   "Generation of the human iPSC lines AKOSi011-A carrying the mutation
RT   p.Pro65Ser/p.Asp35T and AKOSi012-A, carrying the mutation p.Tyr231His,
RT   derived from FAHN patient fibroblasts.";
RL   Stem Cell Res. 71:103178-103178(2023).
//