A great deal of PWS research uses cellular and animal models. Below is a list of some of the most commonly used PWS cellular models and animal models. Each table includes a brief description of the model, a link to the primary publication, and Principal Investigator (PI) information. Additional PWS iPSC models are currently in development; please contact us for additional information.
Cellular Models
| iPS Cell Line Name | Other names | Sample Type | Sample Description | Availability | Publication | PI |
| PWSUPD1.2 | PWS maternal UPD | human fibroblasts | Uniparental Disomy | PWS iPSC Biobank | Langouet et al. 2018 | Lalande, Chamberlain |
| PWS2.9 | PWS small atypical deletion clone 9 | human fibroblasts | Small atypical deletion | PWS iPSC Biobank | Martins-Taylor et al. 2014 | Lalande, Chamberlain |
| PWS1.7 | PWS deletion 1 clone 7 | human fibroblasts | Deletion (Type 2), available with or without inducible NGN2 inserted into AAVS1 | PWS iPSC Biobank | Chamberlain et al. 2010 | Lalande, Chamberlain |
| PWS2.8 | PWS small atypical deletion clone 8 | human fibroblasts | Small atypical deletion | Martins-Taylor et al. 2014 | Lalande, Chamberlain | |
| PWS iPSC-1 (BP2-BP3 del) | human skin fibroblasts | Deletion (Type 2) | Stelzer et al. 2014 | Benvenisty | ||
| PWS iPSC-2 (SNRPN exon 2 paternal translocation) | human skin fibroblasts | Translocation | Stelzer et al. 2014 | Benvenisty | ||
| PWS iPSC Del | human skin fibroblasts | Deletion | Okuno et al. 2017 | Okano | ||
| 129-CUMC/UF | human skin fibroblasts | Deletion (Type 2) | Burnett et al. 2016 | Leibel | ||
| 139-CUMC/UF | human skin fibroblasts | Deletion (Type 1) | Burnett et al. 2016 | Leibel | ||
| 031M-CUMC/INSERM | human skin fibroblasts | Deletion (Type 1) | Burnett et al. 2016 | Leibel | ||
| 066MD-CUMC/INSERM | human skin fibroblasts | Microdeletion | Burnett et al. 2016 | Leibel | ||
| iPSC-derived fibroblast GM21889 (coriell), translocation | human skin fibroblasts | Translocation | Yang et al. 2010 | Pei, Esteban | ||
| KSCBi009-A | KNIH-PWS003i-A | peripheral blood mononuclear cells | Deletion | Available in the Korean Stem Cell Bank (KSCB) | Kim et al. 2020 | Kim |
| ZIPi021-A | ZIP21 K1 | human fibroblasts | Uniparental Disomy | EU Human Pluripotent Stem Cell Registry Contact: Björn Brändl |
Heseding et al., 2023 | Deest |
| Ptx-derived dental pulp stem cell lines | RNA/protein from multiple lines | Deletion, IC-defect, UPD |
Available from Dr. Larry Reiter at UTHSC (lreiter@uthsc.edu) |
Reiter |
Animal Models
This table of PWS animal models was adapted from the publication by Resnick et al, outlining recommendations for the investigation of animal models of PWS. For the full list of PWS models, see the publication here. Additional PWS animal models are currently in development; please contact us for additional information (theresa.strong@fpwr.org).
| Model Name | Species |
Gene(s) of Interest | Tested Phenotypes | Primary Reference | Lab / PI for Strain Availability |
| Imprinting center deletion; Snrpntm2Cbr; deltaPWS-IC; PWS-IC deletion; PWS-ICdel; PWS-ICdel35kb | Mouse | Imprinting, all PWS genes | Postnatal lethality, postnatal growth, reduced activity, abnormal behavior | Cryopreserved embryos at JAX (Resnick) | |
| Snrpntm2.1Kaj ;PWS-ICflox6kb | Mouse | Conditional | Viable, postnatal growth | Cryopreserved embryos at JAX (Resnick) | |
| Del(7Ube3a-Snrpn)1Alb Snrpn-Ube3a deletion | Mouse | Imprinting, all PWS genes | Postnatal lethality, postnatal growth, fertile, not obese | A Beaudet | |
| Snrpntm2Alb; PW-ICdelta4.8 | Mouse | Imprinting, all PWS genes | Postnatal lethality, postnatal growth retardation | A Beaudet | |
| Snord116-Brosius; Del(7Ipw-Snord116)1Jbro; Ipw-Snord116/Mbii-85Bro deletion | Mouse | Imprinting, Ipw, Snord116 | Postnatal lethality, postnatal growth retardation after P5 not obese, fertile | Brosius | |
| Snord116-Francke; Snord116tm1.1Uta; Snord116tm1Uta (conditional); Snord116/Mbii-85Uta | Mouse | Imprinting, Snord116 | Viable, postnatal growth retardation after P2, low Igf1, Normal pituitary, lean body composition, fertile, delayed puberty, abnormal behavior, abnormal feeding and metabolism | Register interest for cryopreserved embryos at JAX (Francke) | |
| Necdin tm1.1Mus-knockout | Mouse | Necdin | Postnatal lethality, respiratory defect, serotonergic, not obese, fertile, reduced hypothalamic GnRH neurons, small testes, normal motor function, abnormal behavior, defective muscle healing | Available via EMMA, Strain ID 15285 | |
| Ndn-Wevrick; B6.129S1(Cg)-Ndntm2Stw/J | Mouse | Necdin | Postnatal lethality, respiratory defect, abnormal histology-nervous system, abnormal muscle, delayed cellular migration, impaired intracellular signaling, delayed GnRH neuron migration, adiposity | Cryopreserved at JAX (Wevrick) | |
| Magel2-Wevrick; C57BL/6-Magel2tm1Stw/J | Mouse | Magel2 | Prenatal lethality, normal postnatal viability, postnatal growth retardation, increased fat to muscle, abnormal endocrine function, abnormal hypoglycemia response, abnormal behavior, abnormal brain MRI, progressive infertility, abnormal metabolism, abnormal food consumption, abnormal circadian rhythm | Live at JAX (Wevrick) | |
| Magel2 tm1.1Mus-knockout | Mouse | Magel2 | Postnatal lethality, impaired neonatal feeding, normal organ histology, postnatal growth, oxytocin system defect, no obesity, abnormal circadian rhythm, infertility, abnormal behavior | Available via EMMA, Strain ID 15286 | |
| Snrpntm1Kaj; PWS-IC Hs | Mouse | Imprinting, all PWS genes | Postnatal lethality, postnatal growth retardation, fertile | Resnick | |
| Magel2 Frameshift Glu564Serfs*130 | Mouse | Magel2 | Low weaning weight, normalization to wild-type levels. | Saitoh | |
| Magel2 Truncation c.735_742del | Rat | Magel2 | Anxiety-like behavior and sociability, body composition, cardiac structure and function, and breathing | RRRC (deposit in progress) |
