Cellosaurus cell line JTUi007-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; JTUi007-A
Biological sample resources	BioSamples; SAMEA9697106
Encyclopedic resources	Wikidata; Q108820571
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	5