GM23262
iPSC from Fibroblast
Description:
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
DYSTROPHIN; DMD
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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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Molecular characterization after cell line submission to CCR
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ISCN
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46,XY[18].arr Xp21.1(31696891-31876381)x0
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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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| 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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| Gene |
DMD |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
; DUCHENNE MUSCULAR DYSTROPHY |
| Identified Mutation |
EX45-53DEL |
| Remarks |
Induced pluripotent stem cell line derived from GM04981 by reprogramming with lentiviral constructs encoding OCT4 (also known as POU5F1), SOX2, Klf4 and cMyc (Park et al. Cell 134:877-86, 2008); Park et al. confirmed deletion of exons 45-52 in the DMD gene.
Clinically affected; Becker type; positive Gower's sign; significant lordosis; pseudohypertrophy of calves; muscle weakness; atrophy of shoulder girdle musculature; muscle biopsy diagnosed muscular dystrophy with the comment "although the number of actively degenerating fibers in this sample is small, neither the character nor the degree of change enables one to distinguish Becker from Duchenne dystrophy"; elevated CPK of 2,840; PCR analysis of dystrophin gene shows deletion starting at (and including) exon 45 through at least exon 52; exon 60 is not deleted; MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the deletion of exons 45-53; 2 affected maternal uncles. 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.. |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Ham's F12 Medium/Dulbecco Modified Eagles Medium, 1:1 mixture with 2mM L-glutamine or equivalent |
| Serum |
20% Knock-out Serum Replacement |
| Substrate |
Gelatin + Feeder Layer |
| Supplement |
- |
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