ID   PNUSCRi005-A
AC   CVCL_E4EB
DR   BioSamples; SAMEA116043891
DR   hPSCreg; PNUSCRi005-A
CC   From: Convergence Stem Cell Research Center, Pusan National University; Yangsan; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; HGNC:5389; IDS; Simple; c.418+495_1006+1304del; Zygosity=Hemizygous (hPSCreg=PNUSCRi005-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61260; Hunter syndrome
DI   ORDO; Orphanet_580; Mucopolysaccharidosis type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10-14Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//