GM23711
LCL from B-Lymphocyte
Description:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1
METHYL-CPG-BINDING DOMAIN PROTEIN 5; MBD5
CHROMOSOME DELETION
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Chromosome Abnormalities |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Family Member
|
1
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX.arr 2q22.3q23.1(148061953-148796667)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Clinically affected; dysmorphic features include: relatively prominent frontal area on head, small nasal bridge, diminutive nose, mild sandal gap in the right lower foot; developmental delay; motor delay; not able to walk independently at 18 months; heterozygous de novo 713 kb deletion in the MBD5 (methyl-CpG binding domain protein 5) gene confirmed by chromosomal microarray, real-time PCR, and FISH; the aberrant region on the long arm of chromosome 2 contains 3 known genes (an isoform of MBD5, ORC4L and ACVR2A); subject receives physical and speech therapy; lymphoblast is GM23711; unaffected mother is GM24586 fibroblast/GM23712 lymphoblast and unaffected father is GM24587 fibroblast/GM23713 lymphoblast. |
Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021 |
PubMed ID: 35394024 |
|
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 |
|
Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH, Assessment of 2q231 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder American journal of human genetics89:551-63 2011 |
PubMed ID: 21981781 |
Split Ratio |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
|
|