Cellosaurus cell line ITXi013-A (CVCL

Cellosaurus ITXi013-A (CVCL_E8Y9)

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Cell line name

ITXi013-A

Synonyms

PT-R406W

Accession

CVCL_E8Y9

Resource Identification Initiative

To cite this cell line use: ITXi013-A (RRID:CVCL_E8Y9)

Comments

From: Institut du Thorax; Nantes; France.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; HGNC:2770; DES; Simple; p.Arg406Trp (c.1216C>T); ClinVar=VCV000016826; Zygosity=Heterozygous (PubMed=38522388).

Disease

Myofibrillar myopathy 1 (NCIt: C206515)
Desminopathy (ORDO: Orphanet_98909)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_E8YA (ITXi013-B)

Sex of cell

Female

Age at sampling

22Y

Category

Induced pluripotent stem cell

Publications

PubMed=38522388; DOI=10.1016/j.scr.2024.103396
Michelle Geryk, Robin Canac, Virginie Forest, Pierre Lindenbaum, Aurore Girardeau, Manon Baudic, Estelle Baron, Anne Bibonne, Caroline Chariau, Florence Kyndt, Richard Redon ...Show all 15 authors... , Jean-Jacques Schott, Jean-Baptiste Gourraud, Julien Barc, Flavien Charpentier; Show fewer authors
Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line.
Stem Cell Res. 77:103396-103396(2024)

Cross-references

Cell line databases/resources

hPSCreg; ITXi013-A

Biological sample resources

BioSamples; SAMEA115125141

Entry history

Entry creation

14-Aug-2025

Last entry update

14-Aug-2025

Version number