GM23652
Fibroblast from Skin, Unspecified
Description:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6 (WALKER-WARBURG SYNDROME INCLUDED)
CHROMOSOME DELETION
ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN; LARGE1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies
Chromosome Abnormalities
CMD Specific |
| Class |
Congenital Muscle Diseases |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
ENGLISH/IRISH/DUTCH/GERMAN
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
ISCN
|
46,XX.arr 22q12.3(34000927-34080791)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
10 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
LARGE |
| Chromosomal Location |
22q12.3-q13.1 |
| Allelic Variant 1 |
; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A,6 |
| Identified Mutation |
DEL LARGE |
| |
| 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)]. |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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 |
- |
|