UKAi003-A-1

PV2 JAK2 V617F het

General#

Cell Line

hPSCreg Name
UKAi003-A-1
Alternative name(s)
PV2 JAK2 V617F het
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 6th April 2021
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Provider

Generator Universitätsklinikum Aachen (UKA)
Owner Universitätsklinikum Aachen (UKA)
Distributors
Derivation country Germany

External Databases

BioSamples SAMEA8686793
CLO CLO_0103285
Cellosaurus CVCL_A7GZ
Wikidata Q107117218

General Information

* Is the cell line readily obtainable for third parties?
Yes
Research: allowed
Clinical: not allowed
Commercial: not allowed
Subclone of

Donor Information#

General Donor Information

Sex male

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
Polycythemia Vera
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • Polycythemia Rubra Vera
  • polycythemia vera
  • Polycythemia rubra vera
  • Polycythemia vera
  • Polycythemia Vera
show more synonyms
Genetic variants
JAK2 (target)
9p24.1
NM_001322194.1:c.1849G>T
NP_001309123.1:p.Val617Phe
Mosaic
VCV000014662.13
The donor peripheral blood cells (primary sample) used for reprogramming and iPSC generation are heterogeneous and genetically mosaic. The donor had a very high allele frequency of the JAK2 V617F mutation (96%) and the iPSC line UKAi0003-A obtained was homozygous for JAK2 V617F (also termed PV2 JAK2 V617F hom).

Karyotyping (Donor)

Has the donor karyotype been analysed?
No

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
No

Donor Relations

Other cell lines of this donor

External Databases (Donor)

BioSamples SAMEA8686792

Ethics#

Also have a look at the ethics information for the parental line UKAi003-A .
Is there an MTA available for the cell line? Yes
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used?
Are you aware of any constraints on the use or distribution of the cell line from the owner or any parties identified in the query above? No

hIPSC Derivation#

General

The source cell information can be found in the parental cell line UKAi003-A.

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Genes
Is reprogramming vector detectable?
Unknown

Vector free reprogramming

Other

Selection criteria for clones ES cell like morphology
Derived under xeno-free conditions
No
Derived under GMP?
No
Available as clinical grade?
No

Culture Conditions#

Surface coating Gelatin
Feeder cells mouse embryo fibroblasts
Passage method Enzymatically
Collagenase
O2 Concentration 21 %
CO2 Concentration 5 %
Medium Other medium:
Base medium: Knock out DMEM
Main protein source: Knock-out serum replacement
Serum concentration: 20 %
Has Rock inhibitor (Y27632) been used at passage previously with this cell line?
Yes
Has Rock inhibitor (Y27632) been used at cryo previously with this cell line?
Yes
Has Rock inhibitor (Y27632) been used at thaw previously with this cell line?
Yes

Characterisation#

No characterisation data could be found for this subclone. Please open parental cell line UKAi003-A

Genotyping#

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
No

Other Genotyping (Cell Line)

Genetic Modification#

Disease/phenotype related modifications
Polycythemia Vera
One of the JAK2 V617F mutations (NM_001322194.1:c.1849G>T) in UKAi003-A / PV2 JAK2 V617F hom was removed by CRISPR/Cas9 editing to generate a heterozygous JAK2 allele and thus UKAi003-A-1 / PV2 JAK2 V617F het.
Synonyms
  • Polycythemia Rubra Vera
  • polycythemia vera
  • Polycythemia rubra vera
  • Polycythemia vera
  • Polycythemia Vera
show more synonyms
Genetic modifications
JAK2 (target)
Isogenic modification
9p24.1
NM_001322194.1:c.1849G>T
NP_001309123.1:p.Val617Phe
Heterozygous
One of the JAK2 V617F mutations (NM_001322194.1:c.1849G>T) in UKAi003-A / PV2 JAK2 V617F hom was removed by CRISPR/Cas9 editing to generate a heterozygous JAK2 allele and thus UKAi003-A-1 / PV2 JAK2 V617F het.
Repaired