ID   IMEDEAi005-B
AC   CVCL_UJ74
SY   iPS GM02931 CL3
DR   hPSCreg; IMEDEAi005-B
DR   Wikidata; Q94316124
RX   PubMed=30408744;
CC   From: Instituto Mediterraneo de Estudios Avanzados; Esporles; Spain.
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:7632; NAGLU; Simple; p.Pro358Leu (c.1073C>T); ClinVar=VCV000631771; Zygosity=Homozygous (PubMed=30408744).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84898; Mucopolysaccharidosis type IIIB
DI   ORDO; Orphanet_79270; Sanfilippo syndrome type B
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_0M05 ! GM02931
SX   Female
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=30408744; DOI=10.1016/j.scr.2018.10.019;
RA   Vallejo-Diez, Sara
RA   Fleischer, Aarne
RA   Martin-Fernandez, Jose Maria
RA   Sanchez-Gilabert, Almudena
RA   Bachiller, Daniel
RT   "Generation of two induced pluripotent stem cells lines from a
RT   mucopolysaccharydosis IIIB (MPSIIIB) patient.";
RL   Stem Cell Res. 33:180-184(2018).
//