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Cell No. : Cell Name
HPS2807 :  update : 2023/03/20
CommentCurrently not ready. Disease specific iPS cell line derived from a patient of Wilson's disease, unknown genetic etiology. The analysis performed by RIKEN BRC indicated mutations in ATP7B gene; 2975C>T (p.P992L) in one allele and 2495A>G (p.K832R), 2855G>A (p.R952K) and 3029A>C (p.K1010T) in another allele. In addition, this cell line carries 1216T>G (p.S406A) and 1366G>C (p.V456L) mutations in unspecified alleles.
Comment from the depositor
Terms and conditions
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Regarding MTA between user institutions and RIKEN BRC, there are two kinds of MTA, not-for-profit academic purpose (C-XXXX) and for-profit research purpose (C-XXXXp) , depending on the sort of user institutions and the purposes of use. Please use an appropriate MTA(to see). In relation to commercial use and use for patent filing, first of all Please contact RIKEN BRC (cellbank.brc@riken.jp).
Basic information Expected time Upon a request we will start preparation. Contact us: cellips.brc@riken.jp
Cellosaurus(Expasy) CVCL_YS73
Reference information Reference 0
User's Publication 1


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Reference

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User's Publication
16702  Song D, Takahashi G, Zheng YW, Matsuo-Takasaki M, Li J, Takami M, An Y, Hemmi Y, Miharada N, Fujioka T, Noguchi M, Nakajima T, Saito MK, Nakamura Y, Oda T, Miyaoka Y, Hayashi Y.  Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson's disease-specific hepatocytes  Hum Mol Genet  2022  Apr 7;ddac080  PubMed ID: 35388883   DOI: 10.1093/hmg/ddac080



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