HM23675
High Molecular Weight DNA from B-Lymphocyte
Description:
LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL
METHYL-CPG-BINDING PROTEIN 2; MECP2
DUPLICATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities
GeT-RM Samples |
| Estimated Quantity |
5 µg - 20 µg |
| Product Specifications |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
High Molecular Weight DNA from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Family Member
|
2
|
|
Family History
|
N
|
|
Relation to Proband
|
son
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
ISCN
|
46,XY.arr Xq28(152771567-153227663)x2
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
MECP2 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
300005.0030; LUBS X-LINKED MENTAL RETARDATION SYNDROME |
| Identified Mutation |
MECP2 DUP |
| |
| Gene |
MECP2 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
300005.0030; LUBS X-LINKED MENTAL RETARDATION SYNDROME |
| Identified Mutation |
MECP2 DUP |
| Remarks |
Clinically affected; donor subject is hemizygous for a 490 kb Xq28 duplication which includes the MECP2 gene. |
| Kalman LV, Tarleton JC, Percy AK, Aradhya S, Bale S, Barker SD, Bayrak-Toydemir P, Bridges C, Buller-Burckle AM, Das S, Iyer RK, Vo TD, Zvereff VV, Toji LH., Development of a Genomic DNA Reference Material Panel for Rett Syndrome (MECP2-Related Disorders) Genetic Testing. J Mol Diagn.16 (2):273-9 2014 |
| PubMed ID: 24508304 |
| |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
|
|