General

Cell Line
hPSCreg name	BCHi021-A-3
Cite as: When citing this cell line, please use the hPSCreg name (see Naming Tool ) and the corresponding Research Resource ID (RRID).	BCHi021-A-3
Alternative name(s)	HNDS0129-01#A CC47(-/-)
Cell line type	Human induced pluripotent stem cell (hiPSC)
Similar lines	BCHi021-A-1 (HNDS0129-01#A CNC7(+/-)) Donor diseases: Phelan-McDermid syndrome BCHi021-A-2 (HNDS0129-01#A CC20(+/+)) Donor diseases: Phelan-McDermid syndrome BCHi021-A (HNDS0129-01#A) Donor diseases: Phelan-McDermid syndrome UOHi003-A (UOHi001 with its alternative name as UOHi001SHANK3) Donor diseases: Phelan-McDermid Syndrome IMGTi001-B (iTAF5-32) Donor diseases: Phelan-McDermid syndrome IMGTi001-A (iTAF5-29) Donor diseases: Phelan-McDermid syndrome CEBe033-A-2 (SA001 Shank3 hetero1) CEBe033-A-3 (SA001 Shank3 Hetero2) CEBe033-A-4 (SA001 Shank3 Hetero3) CEBe033-A-5 (SA001 Shank3 Homo1) CEBe033-A-6 (SA001 Shank3 Homo2) CEBe033-A-7 (SA001 Shank3 Homo3)
Last update	29th February 2024
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Provider
Generator	Children's Hospital (BCH) Contact: Children's Hospital (BCH)
External Databases
BioSamples	SAMEA115361529
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	BCHi021-A

Donor Information

General Donor Information
Sex	male
Ethnicity	Asian
Phenotype and Disease related information (Donor)
Diseases	A disease was diagnosed. Phelan-McDermid syndrome The donor is affected. Synonyms 22q13 deletion Phelan McDermid syndrome monosomy 22q13 monosomy type 22q13 22q13.3 deletion syndrome PHMDS chromosome 22Q13.3 deletion syndrome deletion 22q13.3 syndrome telomeric 22Q13 monosomy syndrome Phelan-McDermid syndrome show more synonyms show less synonyms
Karyotyping (Donor)
Has the donor karyotype been analysed?	No
External Databases (Donor)
BioSamples	SAMEA115361526

Ethics

Also have a look at the ethics information for the parental line BCHi021-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 BCHi021-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 BCHi021-A .

Genotyping

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

Genetic Modification

Disease/phenotype related modifications

Phelan-McDermid Syndrome Synonyms Chromosome 22q13.3 Deletion Syndrome Phelan-McDermid Syndrome PHMDS Genetic modifications SHANK3 (target) Type of modification Isogenic modification Chromosome location cytoband location: 22q13 Nucleotide sequence variant in HGVS format NM_033517.1: c.3679delG, p.A1227Pfs*57 Is the modification homozygous or heterozygous? Homozygous How has the target locus been modified? Changed