General

Cell Line
hPSCreg name	BCHi025-A-1
Cite as: When citing this cell line, please use the hPSCreg name (see Naming Tool ) and the corresponding Research Resource ID (RRID).	BCHi025-A-1
Alternative name(s)	HNDS0140-01#C CNC30(+/-)
Cell line type	Human induced pluripotent stem cell (hiPSC)
Similar lines	BCHi025-A-2 (HNDS0140-01#C CC8(+/+)) Donor diseases: Haploinsufficiency BCHi025-A (HNDS0140-01#C) Donor diseases: Haploinsufficiency BCHi024-A-1 (HNDS0142-01#D CNC11(+/-)) Donor diseases: Haploinsufficiency BCHi024-A-2 (HNDS0142-01#D CC45-6(+/+)) Donor diseases: Haploinsufficiency BCHi022-A-1 (HNDS0108-01#B CNC7(+/-)) Donor diseases: Haploinsufficiency BCHi022-A-2 (HNDS0108-01#B CC5(+/+)) Donor diseases: Haploinsufficiency BCHi023-A-1 (HNDS0105-01#B CNC5(+/-)) Donor diseases: Haploinsufficiency BCHi023-A-2 (HNDS0105-01#B CC28(+/+)) Donor diseases: Haploinsufficiency BCHi024-A (HNDS0142-01#D) Donor diseases: Haploinsufficiency BCHi022-A (HNDS0108-01#B) Donor diseases: Haploinsufficiency BCHi023-A (HNDS0105-01#B) Donor diseases: Haploinsufficiency OSRi009-A-1 (SGS_D868D) Donor diseases: Schinzel-Giedion Midface-Retraction Syndrome OSRi010-A-1 (SGS_I871I) Donor diseases: Schinzel-Giedion Midface-Retraction Syndrome
Last update	2nd March 2024
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Provider
Generator	Children's Hospital (BCH)
External Databases
BioSamples	SAMEA115372021
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	BCHi025-A

Donor Information

General Donor Information
Sex	female
Ethnicity	White, American
Phenotype and Disease related information (Donor)
Diseases	A disease was diagnosed. Haploinsufficiency The donor is affected.
Karyotyping (Donor)
Has the donor karyotype been analysed?	No
External Databases (Donor)
BioSamples	SAMEA115372020

Ethics

Also have a look at the ethics information for the parental line BCHi025-A .

Is there an MTA available for the cell line?	No
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 BCHi025-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

Surface coating	Matrigel/Geltrex
Feeder cells	No
Medium	Other medium: Base medium: Stemflex Main protein source: Bovine Serum Albumin (BSA) Serum concentration: 1 %
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?	No
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 BCHi025-A .

Genotyping

Karyotyping (Cell Line)
Has the cell line karyotype been analysed?	Yes 46, XX; no clonal abnormalities Karyotyping method: G-Banding
Other Genotyping (Cell Line)

Genetic Modification

Disease/phenotype related modifications

Haploinsufficiency Genetic modifications SETBP1 (target) Type of modification Variant Chromosome location cytoband location: 18q12.3 Nucleotide sequence variant in HGVS format NM_015559.3: c.2572G>A, p.E858K Is the modification homozygous or heterozygous? Heterozygous