GM26069
LCL from B-Lymphocyte
Description:
ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1
COLLAGEN, TYPE VI, ALPHA-1; COL6A1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific
PIGI Consented Sample |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Ethnicity
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Australian
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Country of Origin
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AUSTRALIA
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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 before cell line submission to CCR
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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 |
| |
| Gene |
COL6A1 |
| Chromosomal Location |
21q22.3 |
| Allelic Variant 1 |
; |
| Identified Mutation |
del exons 5-9 |
| Remarks |
Clinically affected; diagnosis confirmed via creatine kinase level, muscle biopsy, and electromyography; hypermobility; scoliosis; tortocolis; trigger thumb; low muscle tone; various contractures; motor functions achieved and maintained without assistance: holding head up, sitting, and walking; motor function achieved but no longer maintained without assistance: running; initial analysis of skeletal muscle biopsy revealed no obvious morphologic abnormalities, but further studies showed apparent loss of collagen VI from the sarcolemma of the myofibres and condensation in the interstitium; RT-PCR and sequencing from fibroblast mRNA, and genomic PCR and sequencing using fibroblast DNA was used to screen for COL6A1, COL6A2, and COL6A3; a de novo heterozygous genomic deletion in COL6A1 that removes exons 5-9 and leads to an in-frame deletion of 90 amino acids was identified; sequencing was not performed at Coriell, but was confirmed via external lab and submitted with sample; unaffected mother is GM26070 and unaffected father is GM26071. Same donor as GM29216 iPSC. |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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