Description:
TUBEROUS SCLEROSIS 2; TSC2
TSC2 GENE; TSC2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XX,inv(9)(p11q13)[24].arr(1-22,X)x2
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.64 |
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
TSC2 |
| Chromosomal Location |
16p13.3 |
| Allelic Variant 1 |
H522T; TUBEROUS SCLEROSIS, TYPE 2 |
| Identified Mutation |
HIS522THR |
| Remark |
Clinically affected; adenoma sebaceum; ungual fibromas; shagreen patches; seizures; mental retardation; intracerebral calcifications; donor subject has a deletion at nucleotide 1564 in exon 14 of the TSC2 gene [1564delC] resulting in a substitution of threonine for histidine at codon 522 [His522Thr (H522T)] and protein truncation at codon 534; polymorphisms in TSC1 include 965T>C and 1335A>G; polymorphisms in TSC2 include 3889G>A; same donor as GM03933 lymphocyte. |
| Pal R, Xiong Y, Sardiello M, Abnormal glycogen storage in tuberous sclerosis complex caused by impairment of mTORC1-dependent and -independent signaling pathways Proceedings of the National Academy of Sciences of the United States of America116:2977-2986 2019 |
| PubMed ID: 30728291 |
| |
| G Nadadhur A, Alsaqati M, Gasparotto L, Cornelissen-Steijger P, van Hugte E, Dooves S, Harwood AJ, Heine VM, Neuron-Glia Interactions Increase Neuronal Phenotypes in Tuberous Sclerosis Complex Patient iPSC-Derived Models Stem Cell Reports116:2977-2986 2018 |
| PubMed ID: 30581017 |
| |
| Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H, Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States Genetics in medicine : official journal of the American College of Medical Genetics9:88-100 2007 |
| PubMed ID: 17304050 |
| Passage Frozen |
4 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids |
| Serum |
15% fetal bovine serum Not inactivated |
|
|