GM23308
Fibroblast from Skin, Unspecified
Description:
ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1
COLLAGEN, TYPE VI, ALPHA-2; COL6A2
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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 |
| Class |
Congenital Muscle Diseases |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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Race
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Korean
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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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| PDL at Freeze |
4.5 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
COL6A2 |
| Chromosomal Location |
21q22.3 |
| Allelic Variant 1 |
; ULLRICH CONGENITAL MUSCULAR DYSTROPHY |
| Identified Mutation |
IVS6-3C>G |
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| Gene |
COL6A2 |
| Chromosomal Location |
21q22.3 |
| Allelic Variant 2 |
K796X; ULLRICH CONGENITAL MUSCULAR DYSTROPHY |
| Identified Mutation |
LYS796TER |
| Remarks |
Clinically affected; onset of symptoms at birth; motor functions achieved and currently maintained: held head up without assistance at 4 months; turned in bed without assistance at 4 months; sat without assistance at 8 months; stood without assistance at 14 months; walked with assistance at 22 months; maximum motor function ever achieved: walking outdoors without assistance at 22 months; cannot climb stairs with handrail; cannot run; motor skills are relatively normal, but needs supervision to prevent falling when walking; diagnosis confirmed by muscle biopsy; abnormal creatine kinase; mildly underdeveloped brain by MRI/CT scan; sequencing revealed that donor subject is a compound heterozygote: one allele has a C>G transversion at nucleotide 856-3 in intron 6 of the COL6A2 gene (IVS6-3C>G) resulting in the disruption of the normal splice acceptor site between intron 6 and exon 7; the second allele has an A>T transversion at nucleotide 2386 in exon 26 resulting in a premature stop at codon 796 [Lys796Ter (K796X)]; same as GM24232 (Lymph); unaffected father is GM23306 (Lymph) and GM23307 (Fibro); unaffected mother is GM23305 (Lymph). |
| Cumulative PDL at Freeze |
4.6 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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