Cellosaurus cell line SDUBMSi009-A (CVCL

Cross-references
Cell line name	SDUBMSi009-A
Accession	CVCL_A4XW
Resource Identification Initiative	To cite this cell line use: SDUBMSi009-A (RRID:CVCL_A4XW)
Comments	From: School of Basic Medical Sciences, Shandong University; Jinan; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:8108; OCRL; Simple; c.940-11G>A; ClinVar=VCV000279859; Zygosity=Hemizygous (PubMed=33540283).
Disease	Oculocerebrorenal syndrome (NCIt: C84940) Oculocerebrorenal syndrome of Lowe (ORDO: Orphanet_534)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	6M
Category	Induced pluripotent stem cell
Publications	PubMed=33540283; DOI=10.1016/j.scr.2021.102171 Liu X.-L., Liu Y., Ma Y.-Y., Gong Y.-Q., Liu Q.-J., Sun W.-J., Guo H. Establishment of patient-specific induced pluripotent stem cell line SDUBMSi009-A from a patient with X-linked Lowe syndrome. Stem Cell Res. 51:102171-102171(2021)
Cell line databases/resources	hPSCreg; SDUBMSi009-A
Encyclopedic resources	Wikidata; Q107116905
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5