GM05146
Fibroblast from Skin, Unspecified
Description:
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Race
|
White
|
|
Family Member
|
3
|
|
Relation to Proband
|
mother
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Remarks |
Clinically affected; hypertrophic nerves over the neck and elbow; scoliosis; sensory and motor loss distally; affected family members include 6 siblings and 3 children; affected son is GM05148; see GM05147 lymphocyte |
| Serfecz J, Bazick H, Al Salihi MO, Turner P, Fields C, Cruz P, Renne R, Notterpek L, Downregulation of the human peripheral myelin protein 22 gene by miR-29a in cellular models of Charcot-Marie-Tooth disease Gene therapy: 2019 |
| PubMed ID: 31455873 |
| |
| Zhou Y, Borchelt D, Bauson JC, Fazio S, Miles JR, Tavori H, Notterpek L, Subcellular diversion of cholesterol by gain- and loss-of-function mutations in PMP22 Glia: 2019 |
| PubMed ID: 32511821 |
| |
| Mukherjee-Clavin B, Mi R, Kern B, Choi IY, Lim H, Oh Y, Lannon B, Kim KJ, Bell S, Hur JK, Hwang W, Che YH, Habib O, Baloh RH, Eggan K, Brandacher G, Hoke A, Studer L, Kim YJ, Lee G, Comparison of three congruent patient-specific cell types for the modelling of a human genetic Schwann-cell disorder Nature biomedical engineering3:571-582 2017 |
| PubMed ID: 30962586 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
|