GM23363
Fibroblast from Skin, Unspecified
Description:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE B1 OR TYPE C1
PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1
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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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Sample Source
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Fibroblast from Skin, Unspecified
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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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GERMAN/POLISH
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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 |
4.7 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
POMT1 |
| Chromosomal Location |
9q34.1 |
| Allelic Variant 1 |
S29R; CONGENITAL MUSCULAR DYSTROPHY WITH DECREASED GLYCOSYLATED ALPHA-DYSTROGLYCAN |
| Identified Mutation |
SER29ARG |
| |
| Gene |
POMT1 |
| Chromosomal Location |
9q34.1 |
| Allelic Variant 2 |
R622X; CONGENITAL MUSCULAR DYSTROPHY WITH DECREASED GLYCOSYLATED ALPHA-DYSTROGLYCAN |
| Identified Mutation |
ARG622TER |
| Remarks |
Clinically affected; climbs stairs with handrail; donor subject is a compound heterozygote: one allele has an A>C transversion at nucleotide 85 in exon 2 of the POMT1 gene (c.85A>C) resulting in the substitution of arginine for serine at codon 29 [Ser29Arg (S29R)] and the second allele has a C>T transition at nucleotide 1864 in exon 18 (c.1864C>T) resulting in a termination signal at codon 622 [Arg622Ter (R622X)]; unaffected father is GM23320; unaffected mother is GM23328 (lymph) and GM23373 (fibro).
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| Cumulative PDL at Freeze |
4.7 |
| Passage Frozen |
6 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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