ID   IGIBi007-A
AC   CVCL_A7JB
SY   GOC-01
DR   hPSCreg; IGIBi007-A
DR   Wikidata; Q107115436
RX   PubMed=33887582;
CC   From: Institute of Genomics and Integrative Biology (CSIR-IGIB); New Delhi; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; 9416; PRKG2; Simple; p.Asn164Lysfs*2 (c.491dup); ClinVar=VCV001326258; Zygosity=Homozygous (PubMed=33887582).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C179298; Acromesomelic dysplasia, PRKG2 type
DI   ORDO; Orphanet_93437; Acromesomelic dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33887582; DOI=10.1016/j.scr.2021.102340;
RA   Kumar M., Wadhwa S., Tyagi N., Ahmad I., Kumar S., Sagar S., Zahra S.,
RA   Kamai A., Shamim U., Kapoor S., Faruq M.;
RT   "Generation of induced pluripotent stem cell line (IGIBi007-A) from a
RT   patient with a novel acromesomelic dysplasia, PRKG2 type (AMDP).";
RL   Stem Cell Res. 53:102340-102340(2021).
//