Description:
SELENON-RELATED MYOPATHY;
RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1
SELENOPROTEIN N, 1; SEPN1
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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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Asian, Other
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Chinese
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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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ISCN
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46,XY[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 |
13 |
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| 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 |
SEPN1 |
| Chromosomal Location |
1p36-p35 |
| Allelic Variant 1 |
; |
| Identified Mutation |
c.802c>t |
| |
| Gene |
SEPN1 |
| Chromosomal Location |
1p36-p35 |
| Allelic Variant 1 |
; |
| Identified Mutation |
c.1406G>A |
| Remarks |
Reprogrammed from parental line GM27127 (PBMC). Clinically affected; heterozygous mutation in SEPN1 gene on exon 6 c.802C>T (p.Arg268Cys) and additional heterozygous mutation in SEPN1 gene on exon 11 c.1406G>A (p.Arg469Gln); maximum motor function is running with both feet leaving ground; current motor function is climbing at least 4 stairs with handrail; BiPAP used most/all nights for less than 12 hours. 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 |
| Substrate |
Matrigel |
| Supplement |
- |
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