GM23363
Fibroblast from Skin, Unspecified
Description:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE B1 OR TYPE C1
PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Muscular Dystrophies CMD Specific |
Class |
Congenital Muscle Diseases |
Biopsy Source
|
Unspecified
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
GERMAN/POLISH
|
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
|
|
PDL at Freeze |
4.7 |
Passage Frozen |
6 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
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).
|
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 |
- |
|
|