GM24375
Fibroblast from Skin, Skin
Description:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2
PROTEIN O-MANNOSYLTRANSFERASE 2; POMT2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific |
|
Biopsy Source
|
Skin
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Skin
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
GERMAN/IRISH
|
|
Family Member
|
2
|
|
Family History
|
Y
|
|
Relation to Proband
|
brother
|
|
Confirmation
|
Biochemical characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.78 |
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
POMT2 |
| Chromosomal Location |
14q24.3 |
| Allelic Variant 1 |
607439.0014; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 |
| Identified Mutation |
GLY353SER; In an Italian patient with congenital muscular dystrophy, cerebellar hypoplasia, microcephaly, and mental retardation (613156), Mercuri et al. (2009) identified compound heterozygosity for 2 mutations in the POMT2 gene: a 1057G-A transition in exon 9 resulting in a gly353-to-ser (G353S) substitution |
| |
| Gene |
POMT2 |
| Chromosomal Location |
14q24.3 |
| Allelic Variant 2 |
607439.0014; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 |
| Identified Mutation |
GLY353SER; In an Italian patient with congenital muscular dystrophy, cerebellar hypoplasia, microcephaly, and mental retardation (613156), Mercuri et al. (2009) identified compound heterozygosity for 2 mutations in the POMT2 gene: a 1057G-A transition in exon 9 resulting in a gly353-to-ser (G353S) substitution |
| Remarks |
Clinically affected; consanguineous parents (first half cousins); decreased fetal movements; symptom onset at age 2 years; microcephaly; failure to thrive; lumbar lordosis; hip flexion contractures; history of aspiration; history of hospitalization for pneumonia; right humerus fracture (non-accidental trauma); myopic astigmatism; normal cardiac evaluations; held head up without assistance achieved at 6-7 months; turned in bed without assistance at 12 months; unable to hold head or sit on own at age 2 years; only able to say “momma” and “dada” at age 2 years-otherwise non-verbal; at 32 months able to sit supporting himself with arms and able to reach for objects; abnormal brain MRI: anterior and inferior frontal lobes symmetrically normal, gyri demonstrate under sulcation and ill defined gray matter appearance; polymicrogyria; abnormal hyperintense T2 and FLAIR signal abnormality in left greater than right frontal lobe subcortical; deep white matter in right and left posterior periatrial (lesser extent in left); POMT2 mutation: exon 9 c.1057 G>A (p.Gly353Ser); utilizes bipap while asleep; g-tube for feeding; positive family history; affected sister is GM24374 (fibroblast) and GM27939 (iPSC) |
| Cumulative PDL at Freeze |
4.78 |
| Passage Frozen |
3 |
| 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 |
| Substrate |
None specified |
| Supplement |
- |
|