ID   iPS-OPA1-BEHR
AC   CVCL_A4NS
DR   SKIP; SKIP003038
DR   Wikidata; Q105509696
RX   PubMed=27879217;
CC   From: Hertie Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases, University of Tubingen; Tubingen; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:8140; OPA1; Simple; c.557-668G>A (c.610+364G>A); ClinVar=VCV000496968; Zygosity=Heterozygous (PubMed=27879217).
CC   Sequence variation: Mutation; HGNC; HGNC:8140; OPA1; Simple; p.Ile382Met (c.1146A>G); ClinVar=VCV000050866; Zygosity=Heterozygous (PubMed=27879217).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C177251; Behr syndrome
DI   ORDO; Orphanet_98671; Hereditary optic neuropathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   48Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
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RX   PubMed=27879217; DOI=10.1016/j.scr.2016.09.012;
RA   Hauser S., Schuster S., Theurer Y., Synofzik M., Schols L.;
RT   "Generation of optic atrophy 1 patient-derived induced pluripotent
RT   stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic
RT   atrophy syndromes (Behr syndrome).";
RL   Stem Cell Res. 17:426-429(2016).
//