NA23652
DNA from Fibroblast
Description:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6 (WALKER-WARBURG SYNDROME INCLUDED)
CHROMOSOME DELETION
ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN; LARGE1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
Chromosome Abnormalities
CMD Specific |
| Class |
Congenital Muscle Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from Fibroblast
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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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ENGLISH/IRISH/DUTCH/GERMAN
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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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ISCN
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46,XX.arr 22q12.3(34000927-34080791)x1
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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 |
10 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
LARGE |
| Chromosomal Location |
22q12.3-q13.1 |
| Allelic Variant 1 |
; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A,6 |
| Identified Mutation |
DEL LARGE |
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| Gene |
LARGE |
| Chromosomal Location |
22q12.3-q13.1 |
| Allelic Variant 2 |
603590.0001; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY TYPE A, 6 |
| Identified Mutation |
GLU509LYS |
| Remarks |
Clinically affected; decreased alpha dystroglycan; diagnosed by muscle biopsy and muscle imaging (MRI); type II lissencephaly (predominant pachygyria-frontal>occipital); possible polymicrogyria; inferior vermis hypoplasia; small pons; inferior vermis hypoplasia; patchy white matter abnormalities in higher parietal white matter; small tectum; mental retardation; turned in bed without assistance at age 3 months; sat without assistance at age 6 months; walked indoors without assistance at age 2 years; ejection fraction > 60%; donor subject is a compound heterozygote: the paternal allele has a 74 kb deletion {chromosome 22q12.3: [32330175 (SNP rs2239746)]- [32403758 (SNP rs2267255)]} of the LARGE gene including coding exons; the maternal allele has a G>A transition at nucleotide 1525 in exon 13 (1525G>A) resulting in the substitution of lysine for glutamic acid at codon 509 [Glu509Lys (E509K)]. |
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