GM24374
Fibroblast from Skin, Skin
Description:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2
PROTEIN O-MANNOSYLTRANSFERASE 2; POMT2
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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 |
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Biopsy Source
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Skin
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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, Skin
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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/IRISH
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Country of Origin
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USA
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Family Member
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1
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Biochemical characterization before cell line submission to CCR
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ISCN
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46,XX[25].arr[hg19] 5q23.1q31.1(116,190,342-132,569,250) hmz, 14q24.2q32.12(70,596,884-92,786,283) hmz, 17q21.31q22(44,002,554-
53,226,622) hmz, 17q24.3q25.3(67,968,671-81,049,726) hmz
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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 |
4.3 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| 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 |
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| 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; presented to neurology at 6 months old with congenital hip dysplasia, weak and decreased muscle tone (frog leg position), in upper extremities more than in lower, head lag in supine position, failure to thrive, motor and speech delays; no seizures; rigid spine; contractures in hip, knee and ankle; frequent respiratory infections and pneumonias; first held head up at 1 month, with control at 2 months; rolled at 4 months, but not consistently; first turned in bed without assistance at 9 months; first sat without assistance at 15 months; cannot stand without assistance; speech began at 13 months; had about 15 words at 20 months and currently says only a few words; sat independently at 20 months; currently sits independently but cannot get out seated position unassisted; unable to pull to stand; feeds self; plays peek a boo; CMD confirmed by abnormal creatine kinase blood test (CPK 3300-4100), muscle biopsy showed significant fibrofatty replacement (20-30% of specimen), perimysial/endomysial fibrosis, fiber size variability, A-DG stain was weak with mixed sarcolemmal and sarcoplasmic pattern; brain MRI and genetic testing; abnormal brain scan found mild scattered white matter changes; homozygous for a mutation in exon 9 of the POMT2 gene, c.1057G>A, p.GLY353SER; G-tube for feeding; positive family history; same subject as GM27939 (iPSC); affected brother is GM24375 (fibroblast) |
| Cumulative PDL at Freeze |
4.3 |
| Passage Frozen |
2 |
| 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 |
- |
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