General

Cell Line
hPSCreg name	STJUDEi004-A-1
Cite as: When citing this cell line, please use the hPSCreg name (see Naming Tool ) and the corresponding Research Resource ID (RRID).	STJUDEi004-A-1 (RRID:CVCL_C6SU)
Alternative name(s)	INS3 Isogenic
Cell line type	Human induced pluripotent stem cell (hiPSC)
Similar lines	STJUDEi004-A (INS3) Donor diseases: Diamond-Blackfan anemia STJUDEi005-A-1 (INS14 Isogenic) Donor diseases: Diamond-Blackfan anemia STJUDEi005-A (INS14) 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	SAMEA111437015
Cellosaurus	CVCL_C6SU
Wikidata	Q117704899
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	STJUDEi004-A

Donor Information

General Donor Information
Sex	female
Ethnicity	Caucasian
Phenotype and Disease related information (Donor)
Diseases	A disease was diagnosed. Diamond-Blackfan anemia RPS19 c. 191T>C [p.Leu64Pro] 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 Diamond Blackfan Anemia show more synonyms show less synonyms
Other Genotyping (Donor)
Is there genome-wide genotyping or functional data available?	No
External Databases (Donor)
BioSamples	SAMEA111437014

Ethics

Also have a look at the ethics information for the parental line STJUDEi004-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 STJUDEi004-A.
Reprogramming method
Vector type	Non-integrating
Vector	Sendai virus
Vector free reprogramming
Other
Derived under xeno-free conditions	Unknown
Derived under GMP?	Unknown
Available as clinical grade?	Unknown

Culture Conditions

Medium

mTeSR™ 1

Characterisation

No characterisation data could be found for this subclone. Please open parental cell line STJUDEi004-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

Diamond-Blackfan anemia 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 Diamond Blackfan Anemia show more synonyms show less synonyms Genetic modifications Type of modification Isogenic modification Chromosome location 19q13.2 Is the modification homozygous or heterozygous? Heterozygous Free text RPS19 c.191T>C [p.Leu64Pro] mutation in the parental line has been fixed by Cas9/HDR-mediated repair, and correction verified by next-generation sequencing. How has the target locus been modified? Repaired