GM25335
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
|
Australian/Irish/German/English
|
Country of Origin
|
USA
|
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 |
Substitution; |
Identified Mutation |
GLY253ASP |
Remarks |
Clinically affected; onset of symptoms at birth; born at 42 weeks; hypotonia; chronic respiratory failure and restrictive lung disease secondary to diagnosis; sleep apnea; dysphagia; gastroesophageal reflux; dextroscoliosis (80 degree curve); thoracic kyphosis; bilateral hip dysplasia-coxa valga; constipation; otitis media; moderate persistent asthma; speech impairment; global developmental delay; max motor function achieved: walking with assistance; current max motor function: sitting when placed; bi-directional sequence analysis of the coding region of the ACTA1 gene (exons 2-7) was performed and revealed that the donor is heterozygous for a c.758G>A (G253D, Gly253Asp) mutation in exon 5 of the ACT1A gene; assistive devices: wheelchair; knee-ankle-foot orthotics; tracheotomy tube; tympanostomy tubes; adenoidectomy; ventilator greater than 12 hours/day; daily airway clearance via cough assist; gastrostomy tube; growing rod implantation (T2-pelvis); medications: ibuprofen, Zantac, lactulose, Senna, ergocalciferol, Benadryl children’s allergy, Nasonex, Singulair, ipratropium bromide, Albuterol, sodium chloride/albuterol nebulizer, Atrovent; fibroblast is GM25336. |
Split Ratio |
1:3 |
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 |
- |
|
|