Description:
NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
NEBULIN; NEB
|
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
|
Polish, Dominican, Puerto Rican, Jamaican, CostaRi
|
|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Family History
|
Y
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
ISCN
|
46,XY[20]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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 |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 1 |
p.Y8107NfsX74; |
| Identified Mutation |
c.24318_24319insAA |
| |
| Gene |
HBB |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 1 |
; NEMALINE MYOPATHY |
| Identified Mutation |
GLU7VAL |
| |
| Gene |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 2 |
p.W5754X; |
| Identified Mutation |
C.17262 G>A |
| Remarks |
Reprogrammed from PBMC; clinically affected; normal MRI/CT scan of the brain; motor functions achieved: holding head up without assistance (maintained with difficulty) and sitting without assistance; motor functions never achieved: walking without assistance and running; diagnosis confirmed by WES; pathogenic variants in NEB: c.24318_24319insAA (p.Y8107NfsX74) inherited from the mother and c.17262G>A (p.W5754X) inherited from the father; pathogenic variant (inherited from the father and possibly associated with phenotype) in the HBB gene is: c.20A>T (p.E7V) the unaffected parents are GM26262 (mother) and GM26263 (father); same subject as GM26260 (lymph) and GM26261 (fibro). The 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 |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
0% none |
| Substrate |
Matrigel |
| Supplement |
- |
|
|