GM23780
Fibroblast from Skin, Unspecified
Description:
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific |
| Class |
Congenital Muscle Diseases |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
ENGLISH/DANISH/GERMAN/FRENCH/CANADIAN/IRISH
|
|
Family Member
|
1
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.45 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
LMNA |
| Chromosomal Location |
1q21.2 |
| Allelic Variant 1 |
L35P; EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT |
| Identified Mutation |
LEU35PRO |
| Remarks |
Clinically affected; diagnostic muscle biopsy; achieved most motor function milestones and then lost them; donor subject is heterozygous for a de novo T>C transition at nucleotide 104 in exon 1 of the LMNA gene (104T>C) resulting in the substitution of proline for leucine at codon 35 [Leu35Pro (L35P)]. |
| DuBose AJ, Lichtenstein ST, Petrash NM, Erdos MR, Gordon LB, Collins FS, Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts Proceedings of the National Academy of Sciences of the United States of America115:4206-4211 2018 |
| PubMed ID: 29581305 |
| Cumulative PDL at Freeze |
9.1 |
| Passage Frozen |
6 |
| Split Ratio |
1:2 |
| 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 |
- |
|
|