GM27108
LCL from B-Lymphocyte
Description:
BETHLEM MYOPATHY
COLLAGEN, TYPE VI, ALPHA-1; COL6A1
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
|
Danish; Polish; 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 |
COL6A1 |
Chromosomal Location |
21q22.3 |
Allelic Variant 1 |
p.Gly290Trp; BETHLEM MYOPATHY 1; BTHLM1 |
Identified Mutation |
c.868G>T |
Remarks |
Clinically affected; maximum motor function climbing at least 4 stairs with handrail; current motor function sit when placed and holding head up when sitting; heterozygous variant on exon 10 in COL6A1 gene c.868G>T (p.Gly290Trp); BiPAP used most/all nights for less than 12 hours; mother (GM27109); father (GM27110). |
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 |
- |
|
|