Description:
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP
PERIPHERAL MYELIN PROTEIN 22; PMP22
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| 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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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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| 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 |
PMP22 |
| Chromosomal Location |
17p11.2 |
| Allelic Variant 1 |
; NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES |
| Identified Mutation |
EX1-5DEL |
| Remarks |
Clinically affected; onset of symptoms at 24 years; diagnosed at 31 years; MLPA reported heterozygous exons deletion 1-5 in the PMP22 gene; residual right peroneal neuropathy; left peroneal neuropathy with slowing at the fibular head and signs of conduction block; right ulnar neuropathy at the elbow with signs of conduction block across the elbow; Hereditary neuropathy with liability to pressure palsies; HNPP Peripheral Myelin Protein 22; PMP22. 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. |
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