Cellosaurus cell line LUEi020-A (CVCL

Cellosaurus LUEi020-A (CVCL_E4H0)

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Cell line name

LUEi020-A

Synonyms

iPS-L9827-6

Accession

CVCL_E4H0

Resource Identification Initiative

To cite this cell line use: LUEi020-A (RRID:CVCL_E4H0)

Comments

From: Institute of Neurogenetics, University of Lubeck; Lubeck; Germany.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:3098; TOR1A; Simple; p.Glu303del (c.907_909delGAG); ClinVar=VCV000005180; Zygosity=Heterozygous (PubMed=32516804).

Disease

Autosomal dominant torsion dystonia 1 (NCIt: C118780)
Early-onset generalized limb-onset dystonia (ORDO: Orphanet_256)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_E4H1 (LUEi020-A-1)	CVCL_E4H2 (LUEi020-A-2)	CVCL_E4H3 (LUEi020-A-3)
CVCL_E4H4 (LUEi020-A-4)

Sex of cell

Female

Age at sampling

36Y

Category

Induced pluripotent stem cell

Publications

PubMed=32516804; DOI=10.1093/brain/awaa139
Ana Catarina Carapinha Cascalho, Joyce Foroozandeh, Lise Hennebel, Jef Swerts, Christine Klein, Stef Rous, Beatriz Dominguez Gonzalez, Antonio Pisani, Maria Meringolo, Sandra F. Gallego, Patrik Verstreken ...Show all 13 authors... , Philip Seibler, Rose E. Goodchild; Show fewer authors
Excess lipin enzyme activity contributes to TOR1A recessive disease and DYT-TOR1A dystonia.
Brain 143:1746-1765(2020)

PubMed=39490211; DOI=10.1016/j.scr.2024.103595
Kerstin Tanzer, Britta Meier, Franca Vulinovic, Heike Pawlack, Christine Klein, Philip Seibler, Aleksandar Rakovic;
Generation of four human-derived iPSC torsinA-3xFLAG reporter lines from a DYT-TOR1A patient.
Stem Cell Res. 81:103595-103595(2024)

Cross-references

Cell line databases/resources

hPSCreg; LUEi020-A

Entry history

Entry creation

19-Dec-2024

Last entry update

19-Dec-2024

Version number