ID   CSCRi006-A
AC   CVCL_C7XP
SY   DBA-fib-iPSC-R2C4
DR   BioSamples; SAMEA112879430
DR   hPSCreg; CSCRi006-A
DR   Wikidata; Q123030971
RX   PubMed=37603219;
CC   From: Centre for Stem Cell Research, Christian Medical College; Vellore; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; 10402; RPS19; Simple; p.Asp8Argfs*42 (c.22_23delAG); Zygosity=Heterozygous (PubMed=37603219).
CC   Miscellaneous: Sex and age of donor from personal communication of Rani S.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=37603219
ST   Amelogenin: X,Y
ST   D10S1248: 14,16
ST   D12S391: 18,20
ST   D16S539: 8,12
ST   D18S51: 13,17
ST   D19S433: 14.2,15.2
ST   D1S1656: 11
ST   D21S11: 28,32.2
ST   D22S1045: 11
ST   D2S1338: 19,20
ST   D2S441: 11,14
ST   D3S1358: 16
ST   D8S1179: 12,13
ST   FGA: 23,26
ST   SE33: 30.2,33.2
ST   TH01: 6
ST   vWA: 16,17
DI   NCIt; C61236; Congenital pure red cell aplasia
DI   ORDO; Orphanet_124; Blackfan-Diamond anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 29-06-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37603219; DOI=10.1007/s13577-023-00946-y;
RA   Rani S., Thamodaran V., Nandy K., Fouzia N.A., Maddali M., Rajesh P.,
RA   Vijayanand S., David E., Velayudhan S.R.;
RT   "Establishment and characterization of CSCRi006-A: an induced
RT   pluripotent stem cell line generated from a patient with
RT   Diamond-Blackfan anemia (DBA) carrying ribosomal protein S19 (RPS19)
RT   mutation.";
RL   Hum. Cell 36:2204-2213(2023).
//