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, Sara
RA   Fleischer, Aarne
RA   Martin, Jose Maria
RA   Sanchez, Almudena
RA   Palomino, Esther
RA   Bachiller, Daniel
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).
//