ID   HPS0660
AC   CVCL_UN30
SY   BRCi001-A
DR   BioSamples; SAMEA5141620
DR   hPSCreg; BRCi001-A
DR   RCB; HPS0660
DR   SKIP; SKIP005526
DR   Wikidata; Q94219283
RX   PubMed=30849633;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:5391; IDUA; Simple; p.Arg89Gln (c.266G>A); ClinVar=VCV000011922; Zygosity=Homozygous (PubMed=30849633).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61261; Hurler syndrome
DI   ORDO; Orphanet_93473; Hurler syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   47Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 10
//
RX   PubMed=30849633; DOI=10.1016/j.scr.2019.101406;
RA   Suga M., Kondo T., Imamura K., Shibukawa R., Okanishi Y., Sagara Y.,
RA   Tsukita K., Enami T., Furujo M., Saijo K., Nakamura Y., Osawa M.,
RA   Saito M.K., Yamanaka S., Inoue H.;
RT   "Generation of a human induced pluripotent stem cell line, BRCi001-A,
RT   derived from a patient with mucopolysaccharidosis type I.";
RL   Stem Cell Res. 36:101406-101406(2019).
//