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Cellosaurus JTUi007-A (CVCL_B0UQ)

[Text version]
Cell line name JTUi007-A
Accession CVCL_B0UQ
Resource Identification Initiative To cite this cell line use: JTUi007-A (RRID:CVCL_B0UQ)
Comments From: Sixth People's Hospital, Shanghai Jiao Tong University; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2433; CSF1R; Simple; p.Ile794Thr (c.2381T>C); ClinVar=VCV000029813; Zygosity=Heterozygous (PubMed=34837774).
Disease Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (NCIt: C153289)
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia (ORDO: Orphanet_313808)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 46Y
Category Induced pluripotent stem cell
Publications

PubMed=34837774; DOI=10.1016/j.scr.2021.102593
Wu J.-Y., Tian W.-T., Zhan F.-X., Luan X.-H., Cao L.
Generation of an human induced pluripotent stem cell JTUi007-A from a patient with CSF1R-related leukoencephalopathy carrying heterozygous p.Ile794Thr mutation in CSF1R gene.
Stem Cell Res. 57:102593-102593(2021)

Cross-references
Cell line databases/resources hPSCreg; JTUi007-A
Biological sample resources BioSamples; SAMEA9697106
Encyclopedic resources Wikidata; Q108820571
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number4