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Cellosaurus SMBCi004-A (CVCL_ZL97)

[Text version]

Cell line name SMBCi004-A
Accession CVCL_ZL97
Resource Identification Initiative To cite this cell line use: SMBCi004-A (RRID:CVCL_ZL97)
Comments From: Shandong Medical Biotechnological Center; Jinan; China.
Population: Chinese; Han.
Derived from sampling site: Urine.
Sequence variations Mutation; HGNC; 4177; GBA; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Homozygous (PubMed=32977293).
Disease Gaucher disease (NCIt: C61268)
Gaucher disease (ORDO: Orphanet_355)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 8Y
Category Induced pluripotent stem cell
Publications

PubMed=32977293; DOI=10.1016/j.scr.2020.101989
Zhao Q.-Y., Cui Y.-Z., Wang J., Shi L., Qi Z.-J., Luan J., Zhang Y., Zhou X.-Y., Han J.-X.
Development of a human iPSC line (SMBCi004-A) from a patient with Gaucher disease.
Stem Cell Res. 48:101989-101989(2020)

Cross-references
Cell line databases/resources hPSCreg; SMBCi004-A
Other Wikidata; Q98132703
Entry history
Entry creation02-Jul-2020
Last entry update20-May-2021
Version number3