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Cellosaurus SDQLCHi029-A (CVCL_A4XL)

[Text version]
Cell line name SDQLCHi029-A
Accession CVCL_A4XL
Resource Identification Initiative To cite this cell line use: SDQLCHi029-A (RRID:CVCL_A4XL)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6930; MC2R; Simple; p.Arg137Trp (c.409C>T); ClinVar=VCV000003265; Zygosity=Heterozygous (PubMed=38430736).
  • Mutation; HGNC; 6930; MC2R; Simple; p.Thr143Ile (c.428C>T); Zygosity=Heterozygous (PubMed=38430736).
Disease Familial glucocorticoid deficiency type 1 (NCIt: C123727)
Familial glucocorticoid deficiency (ORDO: Orphanet_361)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 5Y
Category Induced pluripotent stem cell
Publications

PubMed=38430736; DOI=10.1016/j.scr.2024.103368
Zhang H.-Y., Liu C., Liu Y., Gai Z.-T.
Establishment of human induced pluripotent stem cell line SDQLCHi029-A from one type 1 familial glucocorticoid deficiency patient carrying compound heterozygote mutations in MC2R gene.
Stem Cell Res. 76:103368-103368(2024)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi029-A
Biological sample resources BioSamples; SAMEA115300562
Encyclopedic resources Wikidata; Q107116883
Entry history
Entry creation20-May-2021
Last entry update10-Sep-2024
Version number5