GM25335
LCL from B-Lymphocyte
Description:
NEMALINE MYOPATHY 3; NEM3
ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific
PIGI Consented Sample |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Australian/Irish/German/English
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Country of Origin
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USA
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| 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 |
- |
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