ID   LCHi001-A
AC   CVCL_A6XM
SY   MLAR-004.03
DR   hPSCreg; LCHi001-A
DR   Wikidata; Q107115614
RX   PubMed=34233262;
CC   From: Lurie Children's Hospital of Chicago; Chicago; USA.
CC   Population: Latino or Hispanic.
CC   Sequence variation: Mutation; HGNC; 644; AR; Simple; p.Ile900Phe (c.2698A>T); ClinVar=VCV000464801; Zygosity=Hemizygous (PubMed=34233262).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C120191; Complete androgen insensitivity syndrome
DI   ORDO; Orphanet_99429; Complete androgen insensitivity syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A6XN ! LCHi001-B
SX   Male
AG   15-16Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34233262; DOI=10.1016/j.scr.2021.102441;
RA   Schwartz G.B., Kubo H., Laronda M.M.;
RT   "Generation of two human induced pluripotent stem cell lines from a
RT   patient with complete androgen insensitivity syndrome with a
RT   hemizygous single nucleotide variant in the androgen receptor (AR)
RT   gene.";
RL   Stem Cell Res. 55:102441-102441(2021).
//