ID   GM27162
AC   CVCL_VH44
SY   GM27162*B
DR   Coriell; GM27162
DR   Wikidata; Q54854147
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10818; SGSH; Simple; p.Arg245His (c.734G>A); ClinVar=VCV000005107; Zygosity=Heterozygous (Coriell=GM27162).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84897; Mucopolysaccharidosis type IIIA
DI   ORDO; Orphanet_79269; Sanfilippo syndrome type A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_0M06 ! GM06110
SX   Female
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 30-01-24; Version: 11
//