ID   GM26656
AC   CVCL_RU07
SY   GM26656*B
DR   Coriell; GM26656
DR   Wikidata; Q54854143
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 5391; IDUA; Simple; p.Trp402Ter (c.1205G>A); ClinVar=VCV000011908; Zygosity=Homozygous (Coriell=GM26656).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61261; Hurler syndrome
DI   ORDO; Orphanet_93473; Hurler syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_V528 ! GM00798
SX   Female
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 11
//