ID   UCSFi001-A-73
AC   CVCL_D0NJ
SY   FUS-R521G HOM 1D9; LSUHSi004-A-73
DR   BioSamples; SAMEA112670806
DR   hPSCreg; UCSFi001-A-73
DR   Wikidata; Q123033685
RX   PubMed=36965406;
CC   From: LSU Health Sciences Center in Shreveport; Shreveport; USA.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 4010; FUS; Simple_edited; p.Arg521Gly (c.1561C>G); ClinVar=VCV000016222; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=36965406).
CC   Derived from site: In situ; Leg, skin; UBERON=UBERON_0001511.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=36965406
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D13S317: 8,12
ST   D16S539: 9,10
ST   D18S51: 12,21
ST   D19S433: 15,16
ST   D21S11: 29
ST   D2S1338: 17,18
ST   D3S1358: 15,16
ST   D5S818: 10
ST   D7S820: 10,12
ST   D8S1179: 11,13
ST   FGA: 22,25
ST   Penta D: 9,11
ST   Penta E: 13,15
ST   TH01: 6,7
ST   TPOX: 8,11
ST   vWA: 17,19
DI   NCIt; C168750; Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_Y803 ! GM25256
SX   Male
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=36965406; DOI=10.1016/j.scr.2023.103078;
RA   Akter M., Cui H.-C., Hosain M.A., Ding B.-J.;
RT   "Generation of two induced pluripotent stem cell lines with
RT   heterozygous and homozygous amyotrophic lateral sclerosis-causing
RT   mutation R521G (c.1561C > G) in FUS gene.";
RL   Stem Cell Res. 69:103078-103078(2023).
//