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 Manish Kumar, Saruchi Wadhwa, Nishu Tyagi, Istaq Ahmad, Somesh Kumar, Shakti Sagar, Sana Zahra, Asangla Kamai, Uzma Shamim, Seema Kapoor, Mohammed Faruq; 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