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Cellosaurus CHOPi008-B (CVCL_C1NV)

[Text version]
Cell line name CHOPi008-B
Synonyms TMD145.E46.G1S; CHOPi-008-B
Accession CVCL_C1NV
Resource Identification Initiative To cite this cell line use: CHOPi008-B (RRID:CVCL_C1NV)
Comments From: Children's Hospital of Philadelphia; Philadelphia; USA.
Population: Caucasian.
Characteristics: While originating from a Down syndrome patient, this cell line has lost the extra copy of chromosome 21 (PubMed=37677872).
Karyotypic information: 46,XY (PubMed=37677872).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4170; GATA1; Simple; p.Glu2Glyfs*37 (c.4dupG) (c.3_4insG); Zygosity=Unspecified (PubMed=37677872).
Disease Down syndrome (NCIt: C2993)
Transient abnormal myelopoiesis associated with Down syndrome (NCIt: C82339)
Down syndrome (ORDO: Orphanet_870)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C1NU ! CHOPi008-A
CVCL_C1NW ! CHOPi008-C
Sex of cell Male
Age at sampling 8D
Category Induced pluripotent stem cell
Publications

PubMed=37677872; DOI=10.1016/j.scr.2023.103198; PMCID=PMC10872805
Takasaki K., Kumar S.S., Gagne A.L., French D.L., Chou S.T.
Generation of CHOPi-008-B, a euploid iPSC line from a patient with trisomy 21 and a GATA1 mutation.
Stem Cell Res. 72:103198-103198(2023)

Cross-references
Cell line databases/resources hPSCreg; CHOPi008-B
Biological sample resources BioSamples; SAMEA111510100
Encyclopedic resources Wikidata; Q114310961
Entry history
Entry creation22-Sep-2022
Last entry update05-Oct-2023
Version number4