Cell Lines: Immortalized primary patient myoblasts

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 or Dr. Vincent Mouly (Institut de Myologie, Paris, France) directly. Requests are subject to the permission of the clinical investigator who provided the tissue sample.

Jain Foundation Inc.
9725 Third Avenue NE, Suite 204
Seattle, Washington 98115
Phone: 425-882-1492
Fax: 425-882-1050

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