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Cellosaurus LCHi001-B (CVCL_A6XN)

[Text version]
Cell line name LCHi001-B
Synonyms MLAR-004.04
Accession CVCL_A6XN
Resource Identification Initiative To cite this cell line use: LCHi001-B (RRID:CVCL_A6XN)
Comments From: Lurie Children's Hospital of Chicago; Chicago; USA.
Population: Latino or Hispanic.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 644; AR; Simple; p.Ile900Phe (c.2698A>T); ClinVar=VCV000464801; Zygosity=Hemizygous (PubMed=34233262).
Disease Complete androgen insensitivity syndrome (NCIt: C120191)
Complete androgen insensitivity syndrome (ORDO: Orphanet_99429)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A6XM ! LCHi001-A
Sex of cell Male
Age at sampling 15-16Y
Category Induced pluripotent stem cell
Publications

PubMed=34233262; DOI=10.1016/j.scr.2021.102441
Schwartz G.B., Kubo H., Laronda M.M.
Generation of two human induced pluripotent stem cell lines from a patient with complete androgen insensitivity syndrome with a hemizygous single nucleotide variant in the androgen receptor (AR) gene.
Stem Cell Res. 55:102441-102441(2021)

Cross-references
Cell line databases/resources hPSCreg; LCHi001-B
Encyclopedic resources Wikidata; Q107115615
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4