GM23053
LCL from B-Lymphocyte
Description:
POTOCKI-LUPSKI SYNDROME; PTLS
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
PIGI Consented Sample
dbGaP |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
Irish/English/German
|
|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
ISCN
|
46,XX,dup(17)(p13p11.1).arr 17p13.1p11.1(11096921-22159777)x3
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Remarks |
Affected with Potocki-Lupski syndrome and Charcot-Marie Tooth syndrome; hypotonia; breathing problems; gastroesophageal reflux; ADHD; sleep disturbance; abnormal gait; muscle weakness; eye abnormalities; developmental age unknown; frequent ear infections; swallowing problems; excessive choking; difficult to put to bed; problems regulating food intake; treatments include sleep medication and glasses; unaffected mother is GM23054, unaffected father is GM23055, and unaffected brother is GM25576. |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2022 |
| PubMed ID: 35039224 |
| |
| 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 |
| Split Ratio |
1:5 |
| 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 |
- |
|