ID   SDQLCHi029-A
AC   CVCL_A4XL
DR   BioSamples; SAMEA115300562
DR   hPSCreg; SDQLCHi029-A
DR   Wikidata; Q107116883
RX   PubMed=38430736;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:6930; MC2R; Simple; p.Arg137Trp (c.409C>T); ClinVar=VCV000003265; Zygosity=Heterozygous (PubMed=38430736).
CC   Sequence variation: Mutation; HGNC; HGNC:6930; MC2R; Simple; p.Thr143Ile (c.428C>T); Zygosity=Heterozygous (PubMed=38430736).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C123727; Familial glucocorticoid deficiency type 1
DI   ORDO; Orphanet_361; Familial glucocorticoid deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=38430736; DOI=10.1016/j.scr.2024.103368;
RA   Zhang, Hai-Yan
RA   Liu, Chen
RA   Liu, Yi
RA   Gai, Zhong-Tao
RT   "Establishment of human induced pluripotent stem cell line
RT   SDQLCHi029-A from one type 1 familial glucocorticoid deficiency
RT   patient carrying compound heterozygote mutations in MC2R gene.";
RL   Stem Cell Res. 76:103368-103368(2024).
//