GM05148
Fibroblast from Skin, Unspecified
Description:
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A
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 |
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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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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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arr[GRCh37] 17p12(14085624_15475087)x3
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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 |
3.05 |
| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| 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 GM28252 (iPSC) and GM05149 (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 |
5 |
| 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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