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Cellosaurus PUFHi004-A (CVCL_C1VJ)

[Text version]
Cell line name PUFHi004-A
Accession CVCL_C1VJ
Resource Identification Initiative To cite this cell line use: PUFHi004-A (RRID:CVCL_C1VJ)
Comments From: Peking University First Hospital; Beijing; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 25380; TMEM163; Simple; p.Leu76Pro (c.227T>C); ClinVar=VCV002443749; Zygosity=Heterozygous (hPSCreg=PUFHi004-A).
Disease Leukodystrophy (NCIt: C61253)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1-4Y
Category Induced pluripotent stem cell
Cell line databases/resources hPSCreg; PUFHi004-A
Biological sample resources BioSamples; SAMEA14299767
Encyclopedic resources Wikidata; Q114312740
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4