GM16548
Fibroblast from Skin, Unspecified
Description:
RETT SYNDROME; RTT
METHYL-CPG-BINDING PROTEIN 2; MECP2
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Disorders of the Nervous System |
Biopsy Source
|
Unspecified
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
9.52 |
Passage Frozen |
6 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
Gene |
MECP2 |
Chromosomal Location |
Xq28 |
Allelic Variant 1 |
Q244X; RETT SYNDROME |
Identified Mutation |
GLU244TER |
Remarks |
Clinically affected; abnormal sleep patterns; ambulatory with some rigidity/spasticity; spine has slight curve; breath holding; constipation; decelerating head circumference; limited purposeful hand use; nonverbal; poor hand and feet circulation; repetitive hand motions; seldom exhibits self injurious behavior; small feet; teeth grinding; minor eating difficulties and reflux; tremors; EEG showed minor abnormalities; GM16547 lymphoblast from the same donor; donor subject is heterozygous for a 730C>T transition in the MECP2 gene resulting in the substitution of a stop codon for a conserved glutamine [GLU244TER (Q244X)]. |
Belair C, Sim S, Kim KY, Tanaka Y, Park IH, and IH, Wolin SL, The RNA exosome nuclease complex regulates human embryonic stem cell differentiation The Journal of cell biology: 2018 |
PubMed ID: 31308215 |
|
Marchetto MC, Carromeu C, Acab A, Yu D, Yeo GW, Mu Y, Chen G, Gage FH, Muotri AR, A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells Cell143:527-39 2010 |
PubMed ID: 21074045 |
|
Kohonen-Corish M, Strathdee G, Overhauser J, McDonald T, Jammu V, A new deletion of 18q23 with few typical features of the 18q- syndrome. J Med Genet33(3):240-3 1996 |
PubMed ID: 8728701 |
Passage Frozen |
6 |
Split Ratio |
1:2 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not inactivated |
Substrate |
None specified |
Supplement |
- |
|
|