GM23302
LCL from B-Lymphocyte
Description:
CHROMOSOME DELETION
MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1
METHYL-CPG-BINDING DOMAIN PROTEIN 5; MBD5
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities Heritable Diseases |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Ethnicity
|
Hispanic/Latino
|
Country of Origin
|
USA
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis before cell line submission to CCR
|
ISCN
|
46,XY.arr 2q23.1(148444796-148658541)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Clinically affected; infantile feeding difficulty; postnatal growth retardation; dysmorphic features and craniofacial manifestations: low anterior hair line, ear malformation, midface hypoplasia, large pronounced nose, thin/tented upper lip, open mouth, prominent columella, dental abnormalities, wide space between incisors, micrognathia; hand/foot abnormalities; short stature; developmental delay; sleep disturbance; fine motor delay; gross motor delay; language impairment; behavioral problems; short attention span; aggressive behavior; seizures, autistic-like symptoms; repetitive behaviors; self-injurious behaviors; constipation; bedwetting; Small deletion on chromosome 2q23.1 (MBD5 gene). |
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 |
1:3 |
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 |
- |
|
|