GM30031
iPSC from Fibroblast
Description:
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD
SODIUM LEAK CHANNEL, NONSELECTIVE; NALCN
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| Protocols |
Protocol PDF |
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Biopsy Source
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Skin
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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 Fibroblast
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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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Ethnicity
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European
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Country of Origin
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USA
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Family Member
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2
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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,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 |
9 |
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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. |
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| Gene |
NALCN |
| Chromosomal Location |
13q32.3-q33.1 |
| Allelic Variant 1 |
; |
| Identified Mutation |
c.965T>C (p.I322T) |
| Remarks |
Clinically affected; Global neurodevelopmental delay, hypotonia; EEG showed Generalized slowing; Normal EKG. 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 |
9 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
0% none |
| Substrate |
Matrigel |
| Supplement |
- |
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