ID   IMEDEAi004-B
AC   CVCL_UD90
SY   iPS GM00879CL9
DR   hPSCreg; IMEDEAi004-B
DR   Wikidata; Q94316119
RX   PubMed=30269021;
CC   From: Instituto Mediterraneo de Estudios Avanzados; Esporles; Spain.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10818; SGSH; Simple; p.Arg245His (c.734G>A); ClinVar=VCV000005107; Zygosity=Heterozygous (PubMed=30269021).
CC   Sequence variation: Mutation; HGNC; HGNC:10818; SGSH; Simple; p.Glu447Lys (c.1339G>A); ClinVar=VCV000005114; Zygosity=Heterozygous (PubMed=30269021).
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_0L95 ! GM00879
SX   Female
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=30269021; DOI=10.1016/j.scr.2018.09.009;
RA   Vallejo S., Fleischer A., Martin J.M., Sanchez A., Palomino E.,
RA   Bachiller D.;
RT   "Generation of two induced pluripotent stem cells lines from
RT   mucopolysaccharydosis IIIA patient: IMEDEAi004-A and IMEDEAi004-B.";
RL   Stem Cell Res. 32:110-114(2018).
//