Cellosaurus cell line UKBi022-A (CVCL

Cellosaurus UKBi022-A (CVCL_E8WH)

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Cell line name

UKBi022-A

Synonyms

iLB-BAG3-301bm-s2; DE20RENUKBD102753 / R06C02

Accession

CVCL_E8WH

Resource Identification Initiative

To cite this cell line use: UKBi022-A (RRID:CVCL_E8WH)

Comments

From: Institut fur Rekonstruktive Neurobiologie, University Clinic of Bonn; Bonn; Germany.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; HGNC:939; BAG3; Simple; p.Pro209Leu (c.626C>T); ClinVar=VCV000005981; Zygosity=Heterozygous (PubMed=40252588).

Disease

Myofibrillar myopathy 6 (NCIt: C217088)
Muscular dystrophy, Selcen type (ORDO: Orphanet_199340)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_E8WI (UKBi022-A-1)

Sex of cell

Male

Age at sampling

13Y

Category

Induced pluripotent stem cell

Publications

PubMed=39662463; DOI=10.1016/j.scr.2024.103627
Kerstin Filippi, Martin Wiemann, Bernd K. Fleischmann, Michael Hesse;
Generation of two isogenic control lines by correcting the BAG3 P209L mutation of human induced pluripotent stem cell (hiPSC) lines from patients with myofibrillar myopathy-6.
Stem Cell Res. 82:103627-103627(2025)

PubMed=40252588; DOI=10.1016/j.scr.2025.103712
Kerstin Filippi, Martin Wiemann, Stefan Rupp, Michael Peitz, Bernd K. Fleischmann, Michael Hesse;
Generation of human induced pluripotent stem cell (iPSC) lines from two patients with BAG3 P209L myofibrillar myopathy-6.
Stem Cell Res. 86:103712-103712(2025)

Cross-references

Cell line databases/resources

hPSCreg; UKBi022-A

Biological sample resources

BioSamples; SAMEA116110572

Entry history

Entry creation

14-Aug-2025

Last entry update

14-Aug-2025

Version number