GM23230
iPSC from Fibroblast
Description:
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies |
| Protocols |
Protocol PDF |
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Biopsy Source
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Skin
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Cell Type
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Stem cell
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Cell Subtype
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Induced pluripotent stem cell
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Transformant
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Reprogrammed (Retroviral)
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Sample Source
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iPSC from Fibroblast
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Race
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White
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY [25]
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| creatine kinase |
According to the submitter biochemical test results for this subject showed increased enzyme activity. EC Number: 2.7.3.2 |
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| Induced Pluripotent Stem Cell |
The cell line submitted to the Repository frozen was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and directed differentiation toward cardiac neuronal and pancreatic lineages. Steady-state mRNA expression patterns of undifferentiated iPSC EB and differentiated iPSC were determined via real-time PCR. The line was evaluated for in vivo pluripotency via teratoma formation assay. Characterization data are included in the Certificate of Analysis. |
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| Remarks |
Induced pluripotent stem cell line derived from GM04569 Fibroblast; Clinically affected with Becker muscular dystrophy; presented at age 22 with muscle weakness; initially carried diagnosis of Limb-Girdle muscular dystrophy; calf hypertrophy since childhood; tightness around legs noted as young child; difficulty walking up stairs noted at age 13-14; muscle weakness and atrophy of the biceps noted at age 22; by age 33 there was lordosis, grade III weakness of shoulder girdle, absent bicep jerks and modified Gower's maneuver; by age 37 there were absent bicep and tricep reflexes, normal brachioradialis, decreased patellar and ankle jerk on left but normal on the right, grade II weakness of the biceps and triceps, normal grip and forearm strength, grade II to III weakness of hamstrings with associated weakness of the adductors of the quadriceps, normal strength in the calves, ankles and feet, broadbased and labored gait due to weakness; twin brother (possibly identical) also affected; CPK of 1,718 at age 33; transaminase of 73 at age 33; muscle biopsy showed alteration of a long standing chronic myopathy and could be consistent with Limb-Girdle muscular dystrophy or Beckers muscular dystrophy; electromyogram showed primary myopathic changes; dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis; DNA sequencing showed no detectable mutations. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is iPS Academia Japan, Inc.. |
| Park IH, Arora N, Huo H, Maherali N, Ahfeldt T, Shimamura A, Lensch MW, Cowan C, Hochedlinger K, Daley GQ, Disease-Specific Induced Pluripotent Stem Cells Cell134(5):877-86 2008 |
| PubMed ID: 18691744 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Ham's F12 deficient Medium with 2mM L-glutamine or equivalent |
| Serum |
20% serum-free |
| Substrate |
Gelatin + Feeder Layer |
| Supplement |
- |
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