GM27159
Fibroblast from Skin, Skin
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
|
Skin
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Skin
|
|
Race
|
More than one race
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
Race: Caucasian and Asian; Indian and Swiss
|
|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
ISCN
|
46,XX[25].arr(1-22,X)x2
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
8.15 |
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
PACS1 |
| Chromosomal Location |
11q13.1-q13.2 |
| Allelic Variant 1 |
; SCHUURS-HOEIJMAKERS SYNDROME |
| Identified Mutation |
c.607C>T; Schuurs-Hoeijmakers syndrome is an autosomal dominant disorder characterized by mental retardation, distinct craniofacial features, and variable additional congenital abnormalities (summary by Schuurs-Hoeijmakers et al., 2016 |
| Remarks |
Clinically affected; diagnosed by neurologist; seizures, medically intractable epilepsy; dysmorphic features; global developmental delay; severe speech delay; motor processing delay; DNA PCR di-deoxyterminator sequencing performed on DNA obtained from a buccal specimen found a pathogenic de novo heterozygous, missense variant (c.607C>T, p.Arg203Trp) in exon 4 of the PACS1 gene (NM_018026.3); genomic variant is Chr11: 65978677C>T (GRCh37/hg19); variant not found in parents; EEG result abnormal due to seizures; treatment and management: physical therapy; occupational therapy; speech language therapy; medications: Keppra; Trileptal and Valium for seizure management; unaffected mother (GM27160). |
| 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 |
| |
| Villar-Pazos S, Thomas L, Yang Y, Chen K, Lyles JB, Deitch BJ, Ochaba J, Ling K, Powers B, Gingras S, Kordasiewicz HB, Grubisha MJ, Huang YH, Thomas G, Neural deficits in a mouse model of PACS1 syndrome are corrected with PACS1- or HDAC6-targeting therapy Nature communications14:6547 2023 |
| PubMed ID: 37848409 |
| |
| Stern D, Cho MT, Chikarmane R, Willaert R, Retterer K, Kendall F, Deardorff M, Hopkins S, Bedoukian E, Slavotinek A, Schrier Vergano S, Spangler B, McDonald M, McConkie-Rosell A, Burton BK, Kim KH, Oundjian N, Kronn D, Chandy N, Baskin B, Guillen Sacoto MJ, Wentzensen IM, McLaughlin HM, McKnight D, Chung WK, Association of the missense variant pArg203Trp in PACS1 as a cause of intellectual disability and seizures Clinical genetics92:221-223 2016 |
| PubMed ID: 28111752 |
| |
| 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 |
8.15 |
| Passage Frozen |
3 |
| 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 |
- |
|