Description:
NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
NEBULIN; NEB
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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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Country of Origin
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USA
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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[20]
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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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| Passage Frozen |
11 |
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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. |
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| Gene |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 1 |
Frameshift; NEMALINE MYOPATHY 2; NEM2 |
| Identified Mutation |
c.24313_24317dupGTGTT; This variant is predicted to result in a frameshift and premature protein termination. |
| |
| Gene |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 1 |
Splicing defect; NEMALINE MYOPATHY 2; NEM2 |
| Identified Mutation |
c.5238+1G>A; This variant lies in the canonical donor splice site at the exon/intron border. Prediction programs indiciate variant will completely abolish the donor splice site and likely result in aberrant splicing. |
| Remarks |
Clinically affected with congenital nemaline rod myopathy; holds head up, sits and walks without assistance and has maintained these motor functions; subject has never been able to run; diagnosis has been confirmed by muscle biopsy, muscle imaging, and Nextgen sequencing with a congenital myopathy panel; normal brain MRI; donor is heterozygous in the NEB gene for two likely pathogenic variants: c.5238+1G>A (predicted to completely abolish the donor splice site and likely result in aberrant splicing) and c.24313_24317dupGTGTT (predicted to result in a frameshift and premature protein termination p.Tyr8107Cysfs*75); based on the data from several prediction programs, both variants are expected to be pathogenic. |
| Passage Frozen |
11 |
| Split Ratio |
1:8 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none |
| Substrate |
Matrigel |
| Supplement |
- |
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