Immortalized patient myoblasts


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.

NOTE: Fibroblast lines from many of these same patients are also available; please contact Dr. Mouly for details.


To request these cell lines, please contact Dr. Vincent Mouly (Institut de Myologie, Paris, France) or the Jain Foundation. Requests are subject to the permission of the clinical investigator who provided the tissue sample.

Jain Foundation Inc.
2310 130th Ave. NE, Suite B101
Bellevue, WA 98005 USA
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: “AS312LGMD2B37Q”
Dysferlin mutations:
     Exon 8: c.799_800delTT HTZ, p.Phe267LeufsX5
     Exon 33: c.3687C>A HTZ, p.Tyr1229X
Tissue origin: Quadriceps, 37yo female (provided by L. Feasson & N. Levy)
Notes: Non-myogenic

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