Derivation and characterization of the induced pluripotent stem cell line CUIMCi004-A from a patient with a novel frameshift variant in exon 18a of OCRL

Author:

Iannello Grazia,Patel Achchhe,Sirabella Dario,Corneo Barbara,Thaker Vidhu V.

Funder

Columbia University Medical Center

Publisher

Elsevier BV

Subject

Cell Biology,Developmental Biology,General Medicine

Reference4 articles.

1. The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2;De Matteis;Nat. Rev. Nephrol.,2017

2. Generation of the iPSC line CUIMCi003-A derived from a patient with severe early onset obesity;Iannello;Stem Cell Res.,2021

3. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1;Nussbaum;Hum. Genet.,1997

4. Yang, W., Mills, J.A., Sullivan, S., Liu, Y., French, D., Gadue, P., 2012. iPSC Reprogramming from Human Peripheral Blood Using Sendai Virus Mediated Gene Transfer.

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