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Cellosaurus HPS1705 (CVCL_A1SX)

[Text version]
Cell line name HPS1705
Accession CVCL_A1SX
Resource Identification Initiative To cite this cell line use: HPS1705 (RRID:CVCL_A1SX)
Comments Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 10947; SLC20A2; Simple; p.Trp616Ter (c.1848G>A); Zygosity=Heterozygous (from autologous cell line CIRAi003-A).
Disease Idiopathic basal ganglia calcification 1 (NCIt: C129973)
Bilateral striopallidodentate calcinosis (ORDO: Orphanet_1980)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_QX86 ! CIRAi003-A
Sex of cell Male
Age at sampling 28Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) RCB; HPS1705
Encyclopedic resources Wikidata; Q105508265
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number5