Cellosaurus cell line HPS0660 (CVCL

Cross-references
Cell line name	HPS0660
Synonyms	BRCi001-A
Accession	CVCL_UN30
Resource Identification Initiative	To cite this cell line use: HPS0660 (RRID:CVCL_UN30)
Comments	Population: Japanese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:5391; IDUA; Simple; p.Arg89Gln (c.266G>A); ClinVar=VCV000011922; Zygosity=Homozygous (PubMed=30849633).
Disease	Hurler syndrome (NCIt: C61261) Hurler syndrome (ORDO: Orphanet_93473)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	47Y
Category	Induced pluripotent stem cell
Publications	PubMed=30849633; DOI=10.1016/j.scr.2019.101406 Mika Suga, Takayuki Kondo, Keiko Imamura, Ran Shibukawa, Yasue Okanishi, Yukako Sagara, Kayoko Tsukita, Takako Enami, Mahoko Furujo, Kaoru Saijo, Yukio Nakamura ...Show all 15 authors... , Mitsujiro Osawa, Megumu K. Saito, Shinya Yamanaka, Haruhisa Inoue; Show fewer authors Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I. Stem Cell Res. 36:101406-101406(2019)
Cell line collections (Providers)	RCB; HPS0660
Cell line databases/resources	hPSCreg; BRCi001-A SKIP; SKIP005526
Biological sample resources	BioSamples; SAMEA5141620
Encyclopedic resources	Wikidata; Q94219283
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	10