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Cellosaurus ZZUNEUi010-A (CVCL_YZ98)

[Text version]
Cell line name ZZUNEUi010-A
Synonyms CMF001-A
Accession CVCL_YZ98
Resource Identification Initiative To cite this cell line use: ZZUNEUi010-A (RRID:CVCL_YZ98)
Comments From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4010; FUS; Simple; p.Gly504Argfs*12 (c.1509dupA) (p.Arg503fs); ClinVar=VCV000933229; Zygosity=Heterozygous; Note=De novo mutation (PubMed=33093822).
Disease Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (NCIt: C168750)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 17Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=33093822

Markers:
AmelogeninX
CSF1PO10,12
D1S165616,18.3
D2S133819,25
D3S135817
D5S81811
D6S104312,13
D7S82010,11
D8S117912,14
D12S39117,18
D13S31711,12
D16S53910,11
D18S5115
D19S43313,15.2
D21S1130,32
FGA22,23
Penta D9
Penta E17,20
TH019
TPOX8,11
vWA17,19

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Publications

PubMed=33093822; DOI=10.3389/fncel.2020.00273; PMCID=PMC7507938
Chen L., Wang Y.-L., Xie J.
A Human iPSC line carrying a de novo pathogenic FUS mutation identified in a patient with juvenile ALS differentiated into motor neurons with pathological characteristics.
Front. Cell. Neurosci. 14:273.1-273.10(2020)

Cross-references
Cell line databases/resources hPSCreg; ZZUNEUi010-A
Biological sample resources BioSamples; SAMEA6878129
Encyclopedic resources Wikidata; Q98136733
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8