GM28252
iPSC from Fibroblast
Description:
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A
PERIPHERAL MYELIN PROTEIN 22; PMP22
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Protocols |
Protocol PDF |
|
Biopsy Source
|
Skin
|
|
Cell Type
|
Stem cell
|
|
Cell Subtype
|
Induced pluripotent stem cell
|
|
Transformant
|
Reprogrammed (Sendai)
|
|
Sample Source
|
iPSC from Fibroblast
|
|
Race
|
White
|
|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XY[20]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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. |
| |
| Gene |
PMP22 |
| Chromosomal Location |
17p11.2 |
| Allelic Variant 1 |
601097.0001; CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A |
| Identified Mutation |
DUP (17p); Lupski et al [Cell 66: 219 (1991)] found a DNA duplication as the apparent basis of CMT1A [Charcot-Marie-Tooth Disease, Type 1a (118220)]. The duplication was demonstrated in locus D17S122 (probe VAW409R3). |
| Remarks |
Clinically affected; hypertrophic neuropathy; palpable nerves in neck and elbow; high arch of feet; moderate loss of intrinsic foot muscles; hammer toe deformities; moderate weakness of all ankle related musculature; atrophy and weakness distally; decreased sensation; affected family members include 2 siblings, mother, 6 maternal aunts and uncles, and maternal grandfather; affected mother is GM05146; muscle biopsy demonstrated neuropathy; donor subject was found to have a duplication (17p) of the PMP22 gene by MLPA; no mutations were found in the MPZ gene; donor subject also has a homozygous polymorphism: IVS3+64T>C (rs6674383); same subject as GM05149 (lymphocyte); stem cell line reprogrammed from parental fibroblast line GM05148 (fibroblast). 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. |
|