Description:
BETHLEM MYOPATHY
COLLAGEN, TYPE VI, ALPHA-1; COL6A1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific
PIGI Consented Sample |
| Protocols |
Protocol PDF |
|
Biopsy Source
|
Blood
|
|
Cell Type
|
Stem cell
|
|
Cell Subtype
|
Induced pluripotent stem cell
|
|
Transformant
|
Reprogrammed (Sendai)
|
|
Sample Source
|
iPSC from Blood
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
German Swiss
|
|
Country of Origin
|
USA
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
ISCN
|
46,XX[20]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
13 |
| |
| 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 |
; BETHLEM MYOPATHY 1 |
| Identified Mutation |
c.1003-1G>A |
| Remarks |
Clinically affected; maximum motor function is running (both feet leaving ground) and climbing at least 4 stairs without a handrail; current motor function is walking without assistance outdoors greater than 10 steps, and standing without assistance for greater than 2 minutes; heterozygous mutation in intron 13 of COL6A1: c.1003-1G>A; no breathing support used. 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. |
| Passage Frozen |
13 |
| Split Ratio |
1:8 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none Not inactivated |
| Substrate |
Matrigel |
| Supplement |
- |
|