GM05165
Fibroblast from Skin, Unspecified
Description:
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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Race
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White
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Family Member
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2
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Relation to Proband
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father
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Confirmation
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Clinical summary/Case history
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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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| PDL at Freeze |
5.07 |
| Passage Frozen |
4 |
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| Remarks |
Clinically affected; increasing contractures in feet, legs, and hands since teenage years; increasing tightness of fingers over many years; increasing weakness in feet; wheelchair bound for past 3-5 years; dorsal and popliteal pulses unable to be felt; fairly marked contractures of both Achilles tendons; unable to move toes; significant contractures of fingers on both hands, specifically fexion contractures of the third, fourth, and fifth fingers but flexion of the thumb and flexion and extension of the index finger were preserved; unable to elicit any deep tendon reflexes; no pinprick sensation below the mid-forearm; partial sensation to pinprick between mid-forearm and shoulder; normal pinprick on the medial side of the thighs but none on the lateral aspect; no pinprick sensation below knees; unable to raise left leg against gravity; able to raise right knee against gravity but not the heel; able to extend arms 90 degrees; good strength for extension and flexion at elbow; complete atrophy of the intrinsic muscles of both hands; forearm muscles considerably wasted; no palpable enlargement of any peripheral nerves; history of myocardial infarctions, high blood pressure, edema of the legs with secondary stasis dermatitis and ulceration of the foot, and brain hemorrhage at age 29; affected daughter is GM05167; see GM05166 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 |
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| 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 |
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| 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 |
4 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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