GM27161
Fibroblast from Skin, Buttock
Description:
SCHUURS-HOEIJMAKERS SYNDROME; SHMS
PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 1; PACS1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
PIGI Consented Sample |
|
Biopsy Source
|
Buttock
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Buttock
|
|
Ethnicity
|
Spanish, Italian
|
|
Country of Origin
|
USA
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
ISCN
|
46,XY[25].arr(1-22)x2,(X,Y)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
6.66 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
PACS1 |
| Chromosomal Location |
11q13.1-q13.2 |
| Allelic Variant 1 |
607492.0001; SCHUURS-HOEIJMAKERS SYNDROME |
| Identified Mutation |
R203W (c.607C>T); In 2 unrelated boys with mental retardation and a strikingly similar facial appearance (SHMS; 615009), Schuurs-Hoeijmakers et al. (2012) identified a recurrent de novo mutation in the PACS1 gene, resulting in a missense mutation (R203W; 607492.0001) in the furin (cargo) binding region directly adjacent to the CK2 binding motif. Schuurs-Hoeijmakers et al. (2012) found that altered PACS1 forms cytoplasmic aggregates in vitro with concomitant increased stability and showed impaired binding to an isoform-specific variant of TRPV4 (605427), but not the full-length protein. |
| Rylaarsdam L, Rakotomamonjy J, Pope E, Guemez-Gamboa A, iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity Nature communications15:827 2024 |
| PubMed ID: 38280846 |
| |
| Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fernández-Jaén A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG, DDD study HG, Clinical delineation of the PACS1-related syndrome--Report on 19 patients American journal of medical genetics Part A170:670-5 2015 |
| PubMed ID: 26842493 |
| Cumulative PDL at Freeze |
6.66 |
| Passage Frozen |
2 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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 |
- |
|