General

Cell Line
hPSCreg name	UKBi023-A-1
Cite as: When citing this cell line, please use the hPSCreg name (see Naming Tool ) and the corresponding Research Resource ID (RRID).	UKBi023-A-1
Alternative name(s)	iLB-BAG3-P209L-313bm-s9 BAG3 edit
Cell line type	Human induced pluripotent stem cell (hiPSC)
Similar lines	No similar lines found.
Last update	16th October 2024
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Provider
Generator	Universitätsklinikum Bonn (UKB) Contact: Institute of Physiology I (PHYSI)
Owner	Institute of Physiology I (PHYSI)
Distributors	Institute of Physiology I (PHYSI)
Derivation country	Germany
External Databases
BioSamples	SAMEA116132043
General Information
* Is the cell line readily obtainable for third parties?	No
Subclone of	UKBi023-A

Donor Information

General Donor Information
Sex	male
Ethnicity	N/A
Phenotype and Disease related information (Donor)
Diseases	A disease was diagnosed. Myofibrillar myopathy 6 Heterozygous p.Pro209Leu (c.626C>T) mutation in BAG3 gene - Myofibrillar myopathy 6 The donor is a carrier of a disease-associated mutation and affected. Stage N/A Synonyms BAG3-related myofibrillar myopathy Genetic variants Chromosome location BAG3 Is the variant homozygous or heterozygous? Heterozygous ClinVar VCV000005981.61 dbSNP rs121918312 dbVar NM_004281.4 Publication Pubmed ID PMID: 19085932 Free text Myofibrillar myopathy 6
Family history	N/A
Is the medical history available upon request?	N/A
Is clinical information available?	N/A
Other Genotyping (Donor)
Is there genome-wide genotyping or functional data available?	No
External Databases (Donor)
BioSamples	SAMEA116113089

Ethics

Also have a look at the ethics information for the parental line UKBi023-A .

For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used?

hIPSC Derivation

General
The source cell information can be found in the parental cell line UKBi023-A.
Passage number reprogrammed	p8
Reprogramming method
Vector type	Non-integrating
Vector	Sendai virus
Genes	POU5F1 SOX2 KLF4 MYC
Is reprogramming vector detectable?	No
Methods used	PCR
Vector free reprogramming
Other
Derived under xeno-free conditions	Unknown
Derived under GMP?	Unknown
Available as clinical grade?	Unknown

Culture Conditions

Medium	Other medium: Base medium: StemMACS iPS Brew XF Medium Main protein source: Serum concentration: % Supplements Supplement Amount Unit StemMACS iPS Brew XF 50x Supplement 10ml %
Has Rock inhibitor (Y27632) been used at passage previously with this cell line?	No
Has Rock inhibitor (Y27632) been used at cryo previously with this cell line?	No
Has Rock inhibitor (Y27632) been used at thaw previously with this cell line?	No

Characterisation

Analysis of Undifferentiated Cells

Marker Expression

Marker	Expressed	Immunostaining	RT-PCR	Flow Cytometry	Enzymatic Assay	Expression Profiles
POU5F1 (OCT-4)	Yes
TRA 1-60	Yes
SOX2	Yes

Differentiation Potency

Endoderm

Endoderm
Ont Id: UBERON_0000925

In vitro directed differentiation

Mesoderm

Mesoderm
Ont Id: UBERON_0000926

In vitro directed differentiation

Ectoderm

Ectoderm
Ont Id: UBERON_0000924

In vitro directed differentiation

Microbiology / Virus Screening
Mycoplasma	Negative

Genotyping

Karyotyping (Cell Line)
Has the cell line karyotype been analysed?	Yes 46, XY UKBi023-A-1_p8_(002).png Passage number: p8 Karyotyping method: Molecular karyotyping by SNP array http://
Other Genotyping (Cell Line)

Genetic Modification

Genetic modifications not related to a disease

Type of modification Isogenic modification Chromosome location 10q26.11 Is the modification homozygous or heterozygous? Heterozygous Free text The mutation BAG3:c.626C>T (p.Pro209Leu) was repaired by introducing a point mutation (leucine to proline at position 209). How has the target locus been modified? Repaired