GM27453
Fibroblast from Skin, Skin
Description:
SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME
SET-BINDING PROTEIN 1; SETBP1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
PIGI Consented Sample |
|
Biopsy Source
|
Skin
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Skin
|
|
Race
|
White
|
|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
2.87 |
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
SETBP1 |
| Chromosomal Location |
18q12.3 |
| Allelic Variant 1 |
S867R; SCHINZEL-GIEDION SYNDROME |
| Identified Mutation |
c.2601C>A; S867R |
| Wong MMK, Kampen RA, Braden RO, Alagöz G, Hildebrand MS, Dingemans AJM, Corbally J, den Hoed J, Mendoza E, Claassen WJJ, Barnett C, Barnett M, Brusco A, Carli D, de Vries BBA, Elmslie F, Ferrero GB, Jansen NA, van de Laar IMBH, Moroni A, Mowat D, Murray L, Novara F, Peron A, Scheffer IE, Sirchia F, Turner SJ, Vignoli A, Vino A, Weber S, Chung WK, Gerard M, López-González V, Palmer E, Morgan AT, van Bon BW, Fisher SE, SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder Nature communications16:9021 2025 |
| PubMed ID: 41073373 |
| |
| Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenço C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW, Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies PLoS genetics13:e1006683 2016 |
| PubMed ID: 28346496 |
| Passage Frozen |
4 |
| Split Ratio |
1:5 |
| 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 |
| Supplement |
- |
|
|