Description:
BETHLEM MYOPATHY
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 |
| Protocols |
Protocol PDF |
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Biopsy Source
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Blood
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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 (Sendai)
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Sample Source
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iPSC from Blood
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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English, Irish
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Country of Origin
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CANADA
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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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ISCN
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46,XX[19]
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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 parental cell line was recovered reprogrammed to an induced pluripotent stem cell line and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis. |
| |
| Gene |
COL6A1 |
| Chromosomal Location |
21q22.3 |
| Allelic Variant 1 |
p.Gly281Arg; BETHLEM MYOPATHY 1; BTHLM1 |
| Identified Mutation |
c.841G>A |
| Remarks |
Clinically affected; age of diagnosis 47 years and age of symptom onset at birth; current motor function includes holding head up when sitting and sitting when placed; maximum motor function included climbing at least 4 stairs without handrail; heterozygous genetic variant found in COL6A1 gene c.841G>A (p.Gly281Arg); BiPAP used most/all nights for less than 12 hours; assistive devices include a wheelchair and service animal; treatments include physical therapy, occupational therapy, and orthopedic surgery; medications include diovan. 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 Sendai-CytoTune. |
| Split Ratio |
1:8 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none |
| Substrate |
Matrigel |
| Supplement |
- |
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