ID   ZZUNEUi010-A
AC   CVCL_YZ98
SY   CMF001-A
DR   BioSamples; SAMEA6878129
DR   hPSCreg; ZZUNEUi010-A
DR   Wikidata; Q98136733
RX   PubMed=33093822;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 4010; FUS; Simple; p.Gly504Argfs*12 (c.1509dupA) (p.Arg503fs); ClinVar=VCV000933229; Zygosity=Heterozygous; Note=De novo mutation (PubMed=33093822).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=33093822
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D12S391: 17,18
ST   D13S317: 11,12
ST   D16S539: 10,11
ST   D18S51: 15
ST   D19S433: 13,15.2
ST   D1S1656: 16,18.3
ST   D21S11: 30,32
ST   D2S1338: 19,25
ST   D3S1358: 17
ST   D5S818: 11
ST   D6S1043: 12,13
ST   D7S820: 10,11
ST   D8S1179: 12,14
ST   FGA: 22,23
ST   Penta D: 9
ST   Penta E: 17,20
ST   TH01: 9
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)
SX   Female
AG   17Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=33093822; DOI=10.3389/fncel.2020.00273;
RA   Chen L., Wang Y.-L., Xie J.;
RT   "A Human iPSC line carrying a de novo pathogenic FUS mutation
RT   identified in a patient with juvenile ALS differentiated into motor
RT   neurons with pathological characteristics.";
RL   Front. Cell. Neurosci. 14:273.1-273.10(2020).
//