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Cellosaurus FHUSTCi002-A (CVCL_C1T4)

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Cell line name FHUSTCi002-A
Accession CVCL_C1T4
Resource Identification Initiative To cite this cell line use: FHUSTCi002-A (RRID:CVCL_C1T4)
Comments From: The First Affiliated Hospital of USTC, Division of Life Science and Medicine, University of Science and Technology of China; Hefei; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:25538; DARS2; Simple; p.Arg76Serfs*5 (c.228-21_228-20delinsC); ClinVar=VCV000001057; Zygosity=Heterozygous (PubMed=35914483).
  • Mutation; HGNC; HGNC:25538; DARS2; Simple; p.Tyr173Cys (c.518A>G); Zygosity=Heterozygous (PubMed=35914483).
Disease Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (NCIt: C188991)
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome (ORDO: Orphanet_137898)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 21Y
Category Induced pluripotent stem cell
Publications

PubMed=35914483; DOI=10.1016/j.scr.2022.102872
An-Li Zhang, Jie-Ping Lu, Fang Xiao;
An induced pluripotent stem cell line (FHUSTCi002-A) derived from a patient with leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Stem Cell Res. 63:102872-102872(2022)

Cross-references
Cell line databases/resources hPSCreg; FHUSTCi002-A
Biological sample resources BioSamples; SAMEA110183697
Encyclopedic resources Wikidata; Q114311443
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number6