STJUDEi005-A-1

INS14 Isogenic

General

Cell Line

hPSCreg name STJUDEi005-A-1
Cite as:
STJUDEi005-A-1 (RRID:CVCL_C6SW)
Alternative name(s)
INS14 Isogenic
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
STJUDEi004-A-1
(INS3 Isogenic)
Donor diseases:
Diamond-Blackfan anemia
Last update 5th October 2022
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Provider

Generator St. Jude Children's Research Hospital (STJUDE)

External Databases

BioSamples SAMEA111437018
Cellosaurus CVCL_C6SW
Wikidata Q117704901

General Information

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

Donor Information

General Donor Information

Sex female

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
RPS19 mutation associated
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • Aase syndrome
  • Aase-Smith II syndrome
  • Blackfan - Diamond syndrome
  • Blackfan-Diamond anaemia
  • Blackfan-Diamond anemia
  • DBA
  • Diamond-Blackfan anemia
  • chronic constitutional pure red cell anaemia
  • chronic constitutional pure red cell anemia
  • congenital PRCA
  • congenital hypoplastic anaemia
  • congenital hypoplastic anemia
  • congenital hypoplastic anemia, Blackfan-Diamond type
  • congenital pure red cell aplasia
  • erythrogenesis imperfecta
  • inherited erythroblastopenia
  • BDS
  • Blackfan Diamond syndrome
  • Red cell aplasia, pure hereditary
  • anaemia Diamond Blackfan type
  • anaemia congenital erythroid hypoplastic
  • anemia Diamond Blackfan type
  • anemia congenital erythroid hypoplastic
  • aregenerative anaemia chronic congenital
  • aregenerative anemia chronic congenital
show more synonyms

Other Genotyping (Donor)

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

External Databases (Donor)

BioSamples SAMEA111437017

Ethics

Also have a look at the ethics information for the parental line STJUDEi005-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 STJUDEi005-A.

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Is reprogramming vector detectable?
No
Methods used
RT-PCR

Vector free reprogramming

Other

Derived under xeno-free conditions
Unknown
Derived under GMP?
No
Available as clinical grade?
No

Culture Conditions

Medium mTeSR™ 1
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?
Unknown
Has Rock inhibitor (Y27632) been used at thaw previously with this cell line?
No

Characterisation

No characterisation data could be found for this subclone. Please open parental cell line STJUDEi005-A .

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46, XX, normal human female
Karyotyping method: G-Banding

Other Genotyping (Cell Line)

Genetic Modification

Disease/phenotype related modifications
Synonyms
  • Aase syndrome
  • Aase-Smith II syndrome
  • Blackfan - Diamond syndrome
  • Blackfan-Diamond anaemia
  • Blackfan-Diamond anemia
  • DBA
  • Diamond-Blackfan anemia
  • chronic constitutional pure red cell anaemia
  • chronic constitutional pure red cell anemia
  • congenital PRCA
  • congenital hypoplastic anaemia
  • congenital hypoplastic anemia
  • congenital hypoplastic anemia, Blackfan-Diamond type
  • congenital pure red cell aplasia
  • erythrogenesis imperfecta
  • inherited erythroblastopenia
  • BDS
  • Blackfan Diamond syndrome
  • Red cell aplasia, pure hereditary
  • anaemia Diamond Blackfan type
  • anaemia congenital erythroid hypoplastic
  • anemia Diamond Blackfan type
  • anemia congenital erythroid hypoplastic
  • aregenerative anaemia chronic congenital
  • aregenerative anemia chronic congenital
show more synonyms
Genetic modifications
Isogenic modification
19q13.2
Heterozygous
The parental line STJUDEI005-A has the RPS19 c.184C>T heterozygous mutation which has been corrected in this isogenic line by Cas9/homology-directed repair.
Repaired