ID   GM20254
AC   CVCL_CV45
DR   CLO; CLO_0027839
DR   Coriell; GM20254
DR   Wikidata; Q54850872
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:8918; PHEX; Simple; p.Leu650Arg (c.1949T>G); Zygosity=Heterozygous (from familial inference of GM20255).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85234; X-linked dominant hypophosphatemic rickets
DI   ORDO; Orphanet_89936; X-linked hypophosphatemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   32Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 10
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