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 Suga M., Kondo T., Imamura K., Shibukawa R., Okanishi Y., Sagara Y., Tsukita K., Enami T., Furujo M., Saijo K., Nakamura Y., Osawa M., Saito M.K., Yamanaka S., Inoue H. 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