ID   HPS1705
AC   CVCL_A1SX
DR   RCB; HPS1705
DR   Wikidata; Q105508265
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 10947; SLC20A2; Simple; p.Trp616Ter (c.1848G>A); Zygosity=Heterozygous (from autologous cell line CIRAi003-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129973; Idiopathic basal ganglia calcification 1
DI   ORDO; Orphanet_1980; Bilateral striopallidodentate calcinosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_QX86 ! CIRAi003-A
SX   Male
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
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