Cover Image

An iPSC model for POLR3A-associated spastic ataxia: generation of three unrelated patient cell lines

Spastic Ataxias (SA) are a group of neurodegenerative disorders with combined pyramidal and cerebellar system affection, leading to an overlap phenotype between Hereditary Spastic Paraplegias (HSP) and Cerebellar Ataxias (CA). Here we describe the generation of iPSCs from three unrelated patients wi...

Full description

Saved in:
Bibliographic Details
Main Authors: Manibarathi, Kalaivani (Author) , Pham, Tam (Author) , Hengel, Holger (Author) , Synofzik, Matthis (Author) , Nagel, Maike (Author) , Schüle-Freyer, Rebecca (Author)
Format: Article (Journal)
Language:English
Published: 25 February 2024
In: Stem cell research
Year: 2024, Volume: 76, Pages: 103363-1-103363-5
ISSN:1876-7753
DOI:10.1016/j.scr.2024.103363
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.scr.2024.103363
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1873506124000618
Get full text
Author Notes:Kalaivani Manibarathi, Tam Pham, Holger Hengel, Matthis Synofzik, Maike Nagel, Rebecca Schüle

MARC

LEADER 00000caa a2200000 c 4500
001 1908763760
003 DE-627
005 20241220171143.0
007 cr uuu---uuuuu
008 241115s2024 xx |||||o 00| ||eng c
024 7 |a 10.1016/j.scr.2024.103363  |2 doi 
035 |a (DE-627)1908763760 
035 |a (DE-599)KXP1908763760 
035 |a (OCoLC)1475647530 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Manibarathi, Kalaivani  |e VerfasserIn  |0 (DE-588)1348399562  |0 (DE-627)1908763671  |4 aut 
245 1 3 |a An iPSC model for POLR3A-associated spastic ataxia  |b generation of three unrelated patient cell lines  |c Kalaivani Manibarathi, Tam Pham, Holger Hengel, Matthis Synofzik, Maike Nagel, Rebecca Schüle 
264 1 |c 25 February 2024 
300 |a 5 
336 |a Text  |b txt  |2 rdacontent 
337 |a Computermedien  |b c  |2 rdamedia 
338 |a Online-Ressource  |b cr  |2 rdacarrier 
500 |a Gesehen am 15.11.2024 
520 |a Spastic Ataxias (SA) are a group of neurodegenerative disorders with combined pyramidal and cerebellar system affection, leading to an overlap phenotype between Hereditary Spastic Paraplegias (HSP) and Cerebellar Ataxias (CA). Here we describe the generation of iPSCs from three unrelated patients with an ultra-rare subtype of SA caused by compound heterozygous mutations in POLR3A, that encodes the largest subunit of RNA polymerase III. iPSCs were reprogrammed from normal human dermal fibroblasts (NHDFs) using episomal reprogramming with integration-free plasmid vectors: HIHRSi004-A, derived from a 44 year-old male carrying the mutations c.1909 + 22G > A/c.3944_3945delTG, HIHRSi005-A obtained from a 66 year-old male carrying the mutations c.1909 + 22G > A/c.1531C > T, and HIHRSi006-A from a 27 year-old male carrying the mutations c.1909 + 22G > A/c.2472_2472delC (ENST00000372371.8). 
700 1 |a Pham, Tam  |e VerfasserIn  |4 aut 
700 1 |a Hengel, Holger  |e VerfasserIn  |0 (DE-588)1038058813  |0 (DE-627)756614376  |0 (DE-576)392073471  |4 aut 
700 1 |a Synofzik, Matthis  |d 1979-  |e VerfasserIn  |0 (DE-588)136837247  |0 (DE-627)587805188  |0 (DE-576)301302022  |4 aut 
700 1 |a Nagel, Maike  |e VerfasserIn  |0 (DE-588)1287791417  |0 (DE-627)1844351599  |4 aut 
700 1 |a Schüle-Freyer, Rebecca  |d 1975-  |e VerfasserIn  |0 (DE-588)137544472  |0 (DE-627)695848283  |0 (DE-576)30411118X  |4 aut 
773 0 8 |i Enthalten in  |t Stem cell research  |d Amsterdam [u.a.] : Elsevier, 2007  |g 76(2024), Artikel-ID 103363, Seite 103363-1-103363-5  |h Online-Ressource  |w (DE-627)548125856  |w (DE-600)2393143-7  |w (DE-576)284748463  |x 1876-7753  |7 nnas  |a An iPSC model for POLR3A-associated spastic ataxia generation of three unrelated patient cell lines 
773 1 8 |g volume:76  |g year:2024  |g elocationid:103363  |g pages:103363-1-103363-5  |g extent:5  |a An iPSC model for POLR3A-associated spastic ataxia generation of three unrelated patient cell lines 
856 4 0 |u https://doi.org/10.1016/j.scr.2024.103363  |x Verlag  |x Resolving-System  |z lizenzpflichtig  |3 Volltext 
856 4 0 |u https://www.sciencedirect.com/science/article/pii/S1873506124000618  |x Verlag  |z lizenzpflichtig  |3 Volltext 
951 |a AR 
992 |a 20241115 
993 |a Article 
994 |a 2024 
998 |g 137544472  |a Schüle-Freyer, Rebecca  |m 137544472:Schüle-Freyer, Rebecca  |d 910000  |d 911100  |e 910000PS137544472  |e 911100PS137544472  |k 0/910000/  |k 1/910000/911100/  |p 6  |y j 
998 |g 1348399562  |a Manibarathi, Kalaivani  |m 1348399562:Manibarathi, Kalaivani  |d 910000  |d 911100  |e 910000PM1348399562  |e 911100PM1348399562  |k 0/910000/  |k 1/910000/911100/  |p 1  |x j 
999 |a KXP-PPN1908763760  |e 4615274173 
BIB |a Y 
SER |a journal 
JSO |a {"relHost":[{"recId":"548125856","disp":"An iPSC model for POLR3A-associated spastic ataxia generation of three unrelated patient cell linesStem cell research","title":[{"title":"Stem cell research","title_sort":"Stem cell research"}],"part":{"text":"76(2024), Artikel-ID 103363, Seite 103363-1-103363-5","pages":"103363-1-103363-5","volume":"76","year":"2024","extent":"5"},"pubHistory":["1.2007 -"],"type":{"media":"Online-Ressource","bibl":"periodical"},"language":["eng"],"physDesc":[{"extent":"Online-Ressource"}],"note":["Gesehen am 29.01.25","Fortsetzung der Druck-Ausgabe"],"origin":[{"publisherPlace":"Amsterdam [u.a.]","dateIssuedDisp":"2007-","publisher":"Elsevier","dateIssuedKey":"2007"}],"id":{"zdb":["2393143-7"],"issn":["1876-7753"],"eki":["548125856"]}}],"id":{"eki":["1908763760"],"doi":["10.1016/j.scr.2024.103363"]},"origin":[{"dateIssuedDisp":"25 February 2024","dateIssuedKey":"2024"}],"person":[{"family":"Manibarathi","roleDisplay":"VerfasserIn","display":"Manibarathi, Kalaivani","role":"aut","given":"Kalaivani"},{"display":"Pham, Tam","role":"aut","given":"Tam","family":"Pham","roleDisplay":"VerfasserIn"},{"given":"Holger","display":"Hengel, Holger","role":"aut","roleDisplay":"VerfasserIn","family":"Hengel"},{"given":"Matthis","role":"aut","display":"Synofzik, Matthis","family":"Synofzik","roleDisplay":"VerfasserIn"},{"family":"Nagel","roleDisplay":"VerfasserIn","given":"Maike","display":"Nagel, Maike","role":"aut"},{"given":"Rebecca","role":"aut","display":"Schüle-Freyer, Rebecca","roleDisplay":"VerfasserIn","family":"Schüle-Freyer"}],"note":["Gesehen am 15.11.2024"],"physDesc":[{"extent":"5 S."}],"type":{"media":"Online-Ressource","bibl":"article-journal"},"language":["eng"],"name":{"displayForm":["Kalaivani Manibarathi, Tam Pham, Holger Hengel, Matthis Synofzik, Maike Nagel, Rebecca Schüle"]},"title":[{"subtitle":"generation of three unrelated patient cell lines","title_sort":"iPSC model for POLR3A-associated spastic ataxia","title":"An iPSC model for POLR3A-associated spastic ataxia"}],"recId":"1908763760"} 
SRT |a MANIBARATHIPSCMODELF2520 

Similar Items