GM26114
LCL from B-Lymphocyte
Description:
NEMALINE MYOPATHY 3; NEM3
ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific
PIGI Consented Sample |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
Lithuanian
|
|
Country of Origin
|
LITHUANIA
|
|
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
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
ACTA1 |
| Chromosomal Location |
1q42.13 |
| Allelic Variant 1 |
; |
| Identified Mutation |
ASP27ASN |
| Remarks |
Clinically affected; creatine kinase level: 1102 IU; donor is heterozygous for a pathogenic mutation in the ACTA1 gene (c.79G>A, p.D27N); donor also heterozygous for four other unclassified variants: COL6A3 gene (c.4103C>T, p.T1368M), NEB gene (c.5680A>G, p.R1894G), and two mutations in the TTN gene (c.11252C>G, p.P3751R and c.12571G>A, p.V419M); motor function milestones include: holding head up without assistance achieved and maintained, sitting without assistance achieved and maintained, walking without assistance was achieved but not maintained, and running never achieved; diagnostic testing: muscle biopsy and electromyography; normal brain MRI; unaffected mother and father are GM26115 and GM26116, respectively. |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|