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Cell Lines
ACCESS RESOURCES
Cell Lines
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Cell Lines
Below is a list of mouse and human dysferlin deficient cells lines. The information provided includes the source of the cells, the genetic mutations causing the dysferlin deficiency, and how to obtain the cell line. If you have any additional questions about these cell lines or if the cell line you need is not listed please contact the Jain Foundation at admin@jain-foundation.org to see if it is something we can help you obtain.
Human Cell Lines
Description:
Primary myoblast cultures were isolated from dysferlinopathy patient muscle biopsies and transduced with hTERT and cdk-4 for immortalization. Clonal populations of immortalized cells were then isolated and tested for proliferation capacity and myogenicity. Details of the cell lines obtained from different patients are listed below. Muscle biopsies were provided by the listed clinician researchers, and all immortalizations and characterizations were performed by Dr. Vincent Mouly. Control dysferlin expressing cell lines are also available.
NOTE: Fibroblast lines from many of these same patients are also available; please contact Dr. Mouly for details.
Availability:
To request these cell lines, please contact the Jain Foundation (admin@jain-foundation.org) or Dr. Vincent Mouly (vincent.mouly@upmc.fr; Institut de Myologie, Paris, France) directly. Requests are subject to the permission of the clinical investigator who provided the tissue sample.
Jain Foundation Inc.
9706 Fourth Avenue NE, Suite 101
Seattle, Washington 98115
Phone: 425-882-1492
Fax: 425-658-1703
List of available lines:
Line name: “ER”
Dysferlin mutations:
Exon 44: c.4882G>A HMZ, p.G1628R (homozygous)
Tissue origin: Quadriceps, 17yo male (provided by E. Gallardo)
Notes: Good growth and fusion
Line name: “AB320LGMD2B29Q”
Dysferlin mutations:
Intron 4: c.342-1G>A HTZ
Exon 32: c.3516_3517delTT HTZ, p.Ser1173X
Tissue origin: Quadriceps, 29yo female (provided by P. Laforet & N. Levy)
Line name: “107”
Dysferlin mutations:
Exon 8: c.855+1delG HTZ, mRNA decay
Exon 9: c.895G>A HTZ, r.895G>A, p.G299R
Tissue origin: Vastus lateralis, 46yo male (provided by S. Spuler)
Line name: “379”
Dysferlin mutations:
Exon 16: c.1448C>A HTZ, r.1448C>A, p.S483X
Exon 55: c.*107T>A HTZ, r.*107U>A (3’UTR)
Tissue origin: Vastus lateralis, 43yo female (provided by S. Spuler)
Line name: “814”
Dysferlin mutations:
Exon 38: c.4022T>C HMZ, r.4022U>C, p.L1341P (homozygous)
Tissue origin: Vastus lateralis, 60yo unknown gender (provided by S. Spuler)
Notes: Poorly myogenic
Line name: “RB”
Dysferlin mutations:
Exon 49: c.5497G>T HTZ, p.E1833X
Exon 49: c.5946+1G>A HTZ
Tissue origin: Forearm, 43yo male (provided by L. Sweeney & P. Mittal)
Notes: Very poorly myogenic
Line name: “578”
Dysferlin mutations:
Exon 26: c.2810+2T>A; HZ, splice site mutation at C-terminal end of exon
Tissue origin: Triceps, 25yo female
Line name: “744”
Dysferlin mutations:
Exon 27: c.2875C>T; pR959W
Exon 50: c.5606G>A HTZ; p.W1869*
Tissue origin: Triceps, 33yo male
References
Philipi S, Bigot, A, Marg, A, Moul, V, Spuler, S, Zacharias, U. Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathy. PLoS Curr. 2012 Feb 2
Multiple fingerprint free iPSC lines were generated from 3 confirmed dysferlinopathy patients under contract with Cellular Dynamics, Inc. Five heterozygous lines from a single individual and six wild type lines from a single individual were generated simultaneously as controls.
Availability
The iPSC lines have been deposited at WiCell and can be obtained through their website.
If you have any additional questions about these lines, please contact the Jain Foundation: admin@jain-foundation.org
10 human immortalized fibroblast cell lines obtained from dysferlinopathy patients. For information about the characteristics of each cell line and/or to obtain these cell lines please contact Dr. Monkol Lek (monkol.lek@yale.edu) or the Jain Foundation (admin@jain-foundation.org).
10 human immortalized fibroblast cell lines from dysferlinopathy patients converted to myoblasts by MyoD expression. For information about the characteristics of each cell line and/or to obtain these cell lines please contact Dr. Monkol Lek (monkol.lek@yale.edu) or the Jain Foundation (admin@jain-foundation.org).
Mouse Cell Lines
A spontaneously immortalized myoblast line derived from the dysferlin-deficient A/J mouse. Cell line developed by and available from Dr. Joshua Zimmerberg (zimmerbj@mail.nih.gov). Information about the characterization of these cells can be found at https://pubmed.ncbi.nlm.nih.gov/22020321/.
Several cell lines edited at one or more alleles to express chimera proteins of dysferlin fused at its C-terminal luminal end with eGFP. Developed by Dr. Tom Kirchhausen. To obtain these cells contact the Jain Foundation at admin@jain-foundation.org.
C2C12 cells with shRNA-mediated stable knock-down of dysferlin as a single-cell cloned line (isolated by Dr. Rumaisa Bashir). The cells express 10% of normal dysferlin and must be grown under antibiotic selection. Control cells with scrambled shRNA expression are also available. Available from ATCC: https://www.atcc.org/products/crl-3418; https://www.atcc.org/products/all/CRL-3419.aspx.