GM05281
Fibroblast from Skin, Unspecified
Description:
DYSTROPHIA MYOTONICA 1; DM1
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Muscular Dystrophies |
Class |
Disorders with Trinucleotide Expansions |
Biopsy Source
|
Unspecified
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
Race
|
White
|
Family Member
|
4
|
Relation to Proband
|
sister
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Remarks |
Clinically affected; proximal muscle weakness; weakness of grip; occasional joint stiffness; facial weakness; slurred speech; piebaldness; classical hatchet facies with bitemporal atrophy; sunken eyeballs; bilateral ptosis; facial diparesis; weakness of lid closure; loss of intrinsic musculature of upper extremities; weakness to dorsiflexion of both wrists; myotonia of grip and of both thenar eminences; weakness of dorsiflexion of ankles; proximal weakness of quadriceps group; depressed reflexes; Gower's maneuver; temporal recession; affected brother is GM04573; affected father is GM05142; affected nephew is GM04647 |
NCBI GTR |
160900 MYOTONIC DYSTROPHY 1; DM1 |
OMIM |
160900 MYOTONIC DYSTROPHY 1; DM1 |
Omim Description |
DM PROTEIN KINASE, INCLUDED |
|
DYSTROPHIA MYOTONICA; DM |
|
DYSTROPHIA MYOTONICA; DMPK |
|
MYOTONIC DYSTROPHY |
|
MYOTONIC DYSTROPHY PROTEIN KINASE, INCLUDED; MDPK, INCLUDED |
|
MYOTONIN-PROTEIN KINASE, INCLUDED |
|
STEINERT DISEASEDM-KINASE, INCLUDED; DMK, INCLUDED |
Passage Frozen |
3 |
Split Ratio |
1:4 |
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 |
- |
|
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