Description:
NEMALINE MYOPATHY - TYPE UNKNOWN
|
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
|
More than one race
|
|
Ethnicity
|
Hispanic/Latino
|
|
Ethnicity
|
Puerto Rican
|
|
Country of Origin
|
USA
|
|
Family History
|
Y
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XY[20]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
12 |
| |
| Induced Pluripotent Stem Cell |
The frozen cell line submitted to the Repository 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. 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 |
KLHL40 |
| Chromosomal Location |
3p22.1 |
| Allelic Variant 1 |
substitution; Nemaline Myopathy, Type Unknown |
| Identified Mutation |
c.1640G>A; p.Arg547His; Variant of Uncertain Significance |
| Remarks |
Clinically affected; muscle weakness in arms and legs; esotropia; began walking at 1.5 years of age and frequently fell in childhood; motor function achieved and maintained without assistance: holding head up, sitting, walking, difficulty climbing stairs. 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 |
12 |
| Split Ratio |
1:12 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none Not inactivated |
| Substrate |
Matrigel |
| Supplement |
- |
|