Cellosaurus cell line IGIBi007-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; IGIBi007-A
Encyclopedic resources	Wikidata; Q107115436
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	6