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Cellosaurus IGIBi007-A (CVCL_A7JB)

[Text version]
Cell line name IGIBi007-A
Synonyms GOC-01
Accession CVCL_A7JB
Resource Identification Initiative To cite this cell line use: IGIBi007-A (RRID:CVCL_A7JB)
Comments From: Institute of Genomics and Integrative Biology (CSIR-IGIB); New Delhi; India.
Population: Indian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 9416; PRKG2; Simple; p.Asn164Lysfs*2 (c.491dup); ClinVar=VCV001326258; Zygosity=Homozygous (PubMed=33887582).
Disease Acromesomelic dysplasia, PRKG2 type (NCIt: C179298)
Acromesomelic dysplasia (ORDO: Orphanet_93437)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 11Y
Category Induced pluripotent stem cell
Publications

PubMed=33887582; DOI=10.1016/j.scr.2021.102340
Kumar M., Wadhwa S., Tyagi N., Ahmad I., Kumar S., Sagar S., Zahra S., Kamai A., Shamim U., Kapoor S., Faruq M.
Generation of induced pluripotent stem cell line (IGIBi007-A) from a patient with a novel acromesomelic dysplasia, PRKG2 type (AMDP).
Stem Cell Res. 53:102340-102340(2021)

Cross-references
Cell line databases/resources hPSCreg; IGIBi007-A
Encyclopedic resources Wikidata; Q107115436
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5